Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Delmaghani, Sedigheh, Aghaie, Asadollah, Bouyacoub, Yosra, El Hachmi, Hala, Bonnet, Crystel, Riahi, Zied, Chardenoux, Sebastien, Perfettini, Isabelle, Hardelin, Jean-Pierre, Houmeida, Ahmed, Herbomel, Philippe, Petit, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908234/
https://ncbi.nlm.nih.gov/pubmed/27259055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.015
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