M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance-Reference-Cited by-同舟云学术

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

Published:2007 Issue:21 Volume:143A Page:2534-2543
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pollak Agnieszka,Skórka Agata,Mueller-Malesińska Małgorzata,Kostrzewa Grażyna,Kisiel Bartłomiej,Waligóra Jarosław,Krajewski Paweł,Ołdak Monika,Korniszewski Lech,Skarżyński Henryk,Ploski Rafal

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Prevalent connexin 26 gene (GJB2) mutations in Japanese

2. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A?G mitochondrial mutation

3. GJB2: The spectrum of deafness-causing allele variants and their phenotype

4. , , , . 2007. Connexins and Deafness Homepage. http://www.crg.es/deafness.

5. Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

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