Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage-Reference-Cited by-同舟云学术

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Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Published:2005-01-10 Issue:2 Volume:25 Page:207-221
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Chen Jian‐Min¹,Chuzhanova Nadia²³,Stenson Peter D.³,Férec Claude¹,Cooper David N.³

Affiliation:

1. INSERM (Institut National de la Santé et de la Recherche Médicale) U613‐Génétique Moléculaire et Génétique Epidémiologique, Etablissement Français du Sang‐Bretagne, Université de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France

2. Biostatistics and Bioinformatics Unit, Cardiff University, Heath Park, Cardiff, United Kingdom

3. Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom

Funder

INSERM (Institut National de la Santé et de la Recherche Médicale), France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.20133

Reference106 articles.

1. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

2. Gross rearrangement breakpoint database (GRaBD?)

3. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

4. Variations in the Myocilin Gene in Patients With Open-Angle Glaucoma

5. Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms

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