DNA sequence analysis ofGJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls-Reference-Cited by-同舟云学术

DNA sequence analysis ofGJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

Published:2006 Issue:22 Volume:140A Page:2401-2415
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tang Hsiao-Yuan,Fang Ping,Ward Patricia A.,Schmitt Eric,Darilek Sandra,Manolidis Spiros,Oghalai John S.,Roa Benjamin B.,Alford Raye Lynn

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference79 articles.

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

2. ACMG recommendations for standards for interpretation of sequence variations

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

4. , , , . 2005. 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

Cited by 60 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants;Annals of Human Genetics;2024-08-02

2. The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia);Genes;2023-04-28

3. Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss;Genes & Genomics;2022-12-06

4. GJB2 mutation spectrum in the Taiwanese population and genotype–phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations;Hearing Research;2022-01

5. GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population;Acta Médica Portuguesa;2021-08-31