Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization

OBJECTIVE: Copy number variations (CNVs), a major cause of genetic hearing loss, most frequently involve the STRC gene, located on chr15q15.3 and causally related to autosomal recessive non-syndromic hearing loss (ARNSHL) at the DFNB16 locus. The interpretation of STRC sequence data can be challengi...

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Vydáno v:Ann Otol Rhinol Laryngol
Hlavní autoři: Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M, Booth, Kevin, Nishio, Shin-ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L, Iwasa, Yoh-ichiro, Shearer, A Eliot, Fukushima, Yoshimitsu, Smith, Richard JH, Usami, Shin-ichi
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5537730/
https://ncbi.nlm.nih.gov/pubmed/27469136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0003489416661345
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