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Mutations in CLDN14 are associated with different hearing thresholds

Mutations in CLDN14, encoding tight junction protein claudin 14, cause profound deafness in mice and humans. We identified a Pakistani family, in which the affected individuals were homozygous for a known pathogenic mutation c.254 T>A resulting in p.V85D substitution in CLDN14; however, in contra...

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Detalles Bibliográficos
Autores principales: Bashir, Rasheeda, Fatima, Amara, Naz, Sadaf
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992074/
https://www.ncbi.nlm.nih.gov/pubmed/20811388
http://dx.doi.org/10.1038/jhg.2010.104

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