Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9

OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in...

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Detalles Bibliográficos
Autores principales: Wang, Qi, Fei, Peipei, Gu, Hongbo, Zhang, Yanmei, Ke, Xiaomei, Liu, Yuhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243127/
https://www.ncbi.nlm.nih.gov/pubmed/28099493
http://dx.doi.org/10.1371/journal.pone.0170011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243127/
https://www.ncbi.nlm.nih.gov/pubmed/28099493
http://dx.doi.org/10.1371/journal.pone.0170011

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