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Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?

The GJB2 gene is the most frequent cause of congenital or early onset hearing loss worldwide. In this study, we investigated the haplotypes of six GJB2 mutations frequently observed in Japanese hearing loss patients (i.e., c.235delC, p.V37I, p.[G45E; Y136X], p.R143W, c.176_191del, and c.299_300delAT...

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Publicat a:Genes (Basel)
Autors principals: Shinagawa, Jun, Moteki, Hideaki, Nishio, Shin-ya, Noguchi, Yoshihiro, Usami, Shin-ichi
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140863/
https://ncbi.nlm.nih.gov/pubmed/32120898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11030250
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