Cx26 deafness: mutation analysis and clinical variability

Mutations in the gap junction protein connexin 26 (Cx26) gene (GJB2) seem to account for many cases of congenital sensorineural hearing impairment, the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases. The hearing impairment in these patients has been descri...

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Библиографические подробности
Главные авторы: Murgia, A, Orzan, E, Polli, R, Martella, M, Vinanzi, C, Leonardi, E, Arslan, E, Zacchello, F
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 1999
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734250/
https://ncbi.nlm.nih.gov/pubmed/10544226
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