The M34T Allele Variant of Connexin 26-Reference-Cited by-同舟云学术

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The M34T Allele Variant of Connexin 26

Published:2000-12-19 Issue:4 Volume:4 Page:335-344
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Cucci Robert A.¹,Prasad Sai²,Kelley Philip M.³,Green Glenn E.²,Storm Katrien⁴,Willocx Sandra⁴,Cohn Edward S.³,Van Camp Guy⁴,Smith Richard J.H.²

Affiliation:

1. Molecular Otolaryngology Research Laboratories, Department of Otolaryngology - Head and Neck Surgery, Iowa City, IA 52242.

2. Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Iowa City, IA 52242.

3. Boys Town National Research Hospital, Omaha, NE.

4. Department of Medical Genetics, 2610 Antwerp, Belgium.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/109065700750065063

Reference21 articles.

1. Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage.

2. Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

3. Connexin-26 mutations in sporadic and inherited sensorineural deafness

4. Intracellular Trafficking Pathways in the Assembly of Connexins into Gap Junctions

5. Modulation of cell junctions during differentiation of the chicken otocyst sensory epithelium

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1. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel;Genetics in Medicine;2019-11

2. Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel;2018-12-11

3. DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes;Frontiers in Molecular Neuroscience;2017-12-22

4. GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?;International Journal of Pediatric Otorhinolaryngology;2017-11

5. Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families;Porto Biomedical Journal;2016-03

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