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Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions and splice sites of SLC26A4 in individuals su...

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Detalles Bibliográficos
Autores principales:	Pique, Lynn M., Brennan, Marie-Luise, Davidson, Colin J., Schaefer, Frederick, Greinwald Jr, John, Schrijver, Iris
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2014
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4017815/ https://www.ncbi.nlm.nih.gov/pubmed/24860705 http://dx.doi.org/10.7717/peerj.384

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