Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic DNA from an affected member of a consanguineous family segregating recessive, nonsyndromic hearing loss was used to mak...

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Hlavní autoři: Rehman, Atteeq Ur, Morell, Robert J., Belyantseva, Inna A., Khan, Shahid Y., Boger, Erich T., Shahzad, Mohsin, Ahmed, Zubair M., Riazuddin, Saima, Khan, Shaheen N., Riazuddin, Sheikh, Friedman, Thomas B.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2833391/
https://ncbi.nlm.nih.gov/pubmed/20170899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.030
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