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Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Human hereditary deafness at the DFNB29 autosomal locus on chromosome 21q22.1 is caused by recessive mutations of CLDN14, encoding claudin 14. This tight junction protein is tetra-membrane spanning that localizes to the apical tight junctions of organ of Corti hair cells and in many other tissues. T...

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Detalles Bibliográficos
Autores principales:	Bashir, Zil-e-Huma, Latief, Noreen, Belyantseva, Inna A., Iqbal, Farheena, Riazuddin, S. Amer, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596117/ https://www.ncbi.nlm.nih.gov/pubmed/23235333 http://dx.doi.org/10.1038/jhg.2012.143

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