(Q34520022)

2 August 2017

Database for the mutations of the Finnish disease heritage (English)

1 reference

2 August 2017

0 references

Kati Sipilä

1

1 reference

PubMed ID

11754099

2 August 2017

Pertti Aula

series ordinal

2

1 reference

2 August 2017

1 January 2002

1 reference

2 August 2017

1 reference

2 August 2017

19

1 reference

2 August 2017

16-22

1 reference

2 August 2017

1

1 reference

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

2 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutation in gelsolin gene in Finnish hereditary amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Positional cloning of the APECED gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in KERA, encoding keratocan, cause cornea plana

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Molecular genetics of the Finnish disease heritage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Aberrant splicing of the CHM gene is a significant cause of choroideremia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10019

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10019

1 reference

2 August 2017

1 reference

PubMed ID

11754099