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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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Détails bibliographiques
Auteurs principaux: Lee, Kwanghyuk, Amin ud Din, Mohammad, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Format: Artigo
Langue:Inglês
Publié: SAGE-Hindawi Access to Research 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3335613/
https://ncbi.nlm.nih.gov/pubmed/22567349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4061/2011/294675
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