Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

BACKGROUND: Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, th...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: De Keulenaer, Sarah, Hellemans, Jan, Lefever, Steve, Renard, Jean-Pierre, De Schrijver, Joachim, Van de Voorde, Hendrik, Tabatabaiefar, Mohammad Amin, Van Nieuwerburgh, Filip, Flamez, Daisy, Pattyn, Filip, Scharlaken, Bieke, Deforce, Dieter, Bekaert, Sofie, Van Criekinge, Wim, Vandesompele, Jo, Van Camp, Guy, Coucke, Paul
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2012
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3443074/
https://ncbi.nlm.nih.gov/pubmed/22607986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-5-17
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