(Q78705444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Alexey S Kondrashov

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

page(s)

12-27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden.

16 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Evidence for a High Frequency of Simultaneous Double-Nucleotide Substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Pkd1 unusual DNA conformations are recognized by nucleotide excision repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Testicular feminization syndrome and associated gonadal tumors in Denmark

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The spectrum of primary immunodeficiency disorders in Australia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Software and database for the analysis of mutations in the VHL gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Familial adenomatous polyposis (FAP) and its gene, APC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

PAX-6 in development and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation in the PAX6 gene in twenty patients with aniridia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutations in btk in patients with presumed X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The origins, patterns and implications of human spontaneous mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

A new study challenges the current belief of a high human male:female mutation ratio

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Studies of the aetiology of neonatal hepatitis and biliary atresia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Segregation analysis of Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Segregation analysis of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Alagille syndrome: family studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Primary immunodeficiency disorders in Sweden: Cases among children, 1974?1979

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10147

1 reference

7 January 2021

APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Seven Novel Mutations in the APC Gene of Portuguese Families with Familial Adenomatous Polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Severe combined immunodeficiencies (SCID)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Retinoblastoma mutation rate in New Zealand and support for the two-hit model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Haemophilia B: database of point mutations and short additions and deletions--eighth edition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis in 20 patients with Hunter disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Hunter disease in the Spanish population: molecular analysis in 31 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The size distribution of insertions and deletions in human and rodent pseudogenes suggests the logarithmic gap penalty for sequence alignment.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The rate of spontaneous mutation of a human gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Inherited and de novo androgen receptor gene mutations: investigation of single-case families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Deleterious mutations and the evolution of sexual reproduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Measuring spontaneous deleterious mutation process.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

3' deletions cause aniridia by preventing PAX6 gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Estimating prevalence in single-gene kidney diseases progressing to renal failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Molecular analysis in 23 Hunter disease families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

A new set of primers for mutation analysis of the human PAX6 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

A genetic register for von Hippel-Lindau disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Von Hippel-Lindau disease: a genetic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Estimated frequency of urea cycle enzymopathies in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis in emery-dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Frequency of tuberous sclerosis in San-in district (Japan) and birth weight of patients with tuberous sclerosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Evaluation of DHPLC in the analysis of hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Evolution of genome size: new approaches to an old problem.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Genetic aspects of tuberous sclerosis in the west of Scotland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Selective constraint in intergenic regions of human and mouse genomes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Recent human germ-line mutation: inferences from patients with hemophilia B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Jagged1 mutations in alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Primary immunodeficiency diseases in Norway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Dystrophin point mutation screening using a multiplexed protein truncation test.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The proteins of linked genes evolve at similar rates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Chronic granulomatous disease. Report on a national registry of 368 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

[Molecular genetic study of the PAX6 gene in aniridia patients]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Ten novel mutations found in Aniridia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10147

7 January 2021

Identifiers

DOI

10.1002/HUMU.10147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference