(Q57263827)

4

object named as

Michael Krawczak

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author name string

Nadia A. Chuzhanova

1

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Emmanuel J. Anassis

2

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Edward V. Ball

Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992

3

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publication date

20 December 2002

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published in

Human Mutation

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volume

21

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page(s)

28-44

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issue

1

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Demonstration of the production of frameshift and base-substitution mutations by quasipalindromic DNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

The structure and evolution of the human beta-globin gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG?CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1?) gene which causes maturity-onset diabetes of the young (MODY)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

310 basepair APC deletion with duplication of breakpoint (439ins15del310) in an Italian polyposis patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

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.10146

7 January 2021

On the complexity measures of genetic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Alpha 2-antiplasmin Enschede: alanine insertion and abolition of plasmin inhibitory activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A novel ?� arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10146

7 January 2021