Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/12/8/805/1815975/ddg076.pdf
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1. Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions;Frontiers in Physiology;2024-05-07
2. Unveiling a novel <italic>GJB2</italic> dominant K22T mutation in a Chinese family with hearing loss;Acta Biochimica et Biophysica Sinica;2024-05-01
3. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13
4. Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43;International Journal of Molecular Sciences;2023-06-19
5. Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants;Biology;2023-03-27
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