SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
about
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossA Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.Regulation of the orphan nuclear receptor Nr2f2 by the DFNA15 deafness gene Pou4f3.TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese HansLinkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
P2860
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P2860
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
SNP linkage analysis and whole ...... ndromic hearing loss (DFNA15).
@en
type
label
SNP linkage analysis and whole ...... ndromic hearing loss (DFNA15).
@en
prefLabel
SNP linkage analysis and whole ...... ndromic hearing loss (DFNA15).
@en
P2093
P2860
P50
P1433
P1476
SNP linkage analysis and whole ...... ndromic hearing loss (DFNA15).
@en
P2093
Gert Vriend
Hee-Jin Kim
Jong-Won Kim
Kyoung-Jin Park
Sang Sun Cho
Sung Hwa Hong
P2860
P304
P356
10.1371/JOURNAL.PONE.0079063
P407
P577
2013-11-18T00:00:00Z