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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Hlavní autoři: Lee, Kwanghyuk, Amin ud Din, Mohammad, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE-Hindawi Access to Research 2011
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Research Article
On-line přístup: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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