Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In this study, whole-exome sequencing was performed with genomic DNA from affected individuals from three large consanguineous families in whic...

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Detaylı Bibliyografya
Asıl Yazarlar: Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A., Raza, Syed I., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Riazuddin, Saima, Billington, Neil, Khan, Shaheen N., Friedman, Penelope L., Griffith, Andrew J., Ahmad, Wasim, Riazuddin, Sheikh, Leal, Suzanne M., Friedman, Thomas B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2014
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882911/
https://ncbi.nlm.nih.gov/pubmed/24387994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.004
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