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Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to DFNB24. A genome scan was performed using DNA samples from a consanguineous Pakistani family with ARNSHI. A significant maximum...

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Detalles Bibliográficos
Autores principales: Lee, Kwanghyuk, Amin ud Din, Mohammad, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335613/
https://www.ncbi.nlm.nih.gov/pubmed/22567349
http://dx.doi.org/10.4061/2011/294675