Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Item
http://www.wikidata.org/entity/Q39813941
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutationA POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Octamer-binding transcription factors: genomics and functions.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Frequency and specific characteristics of the incomplete partition type III anomaly in children.Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
P2860

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Item
http://www.wikidata.org/entity/Q39813941
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Clinical and molecular charact ...... ll function of POU3F4 protein.
@en
Clinical and molecular charact ...... ll function of POU3F4 protein.
@nl
type
label
Clinical and molecular charact ...... ll function of POU3F4 protein.
@en
Clinical and molecular charact ...... ll function of POU3F4 protein.
@nl
prefLabel
Clinical and molecular charact ...... ll function of POU3F4 protein.
@en
Clinical and molecular charact ...... ll function of POU3F4 protein.
@nl
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P1476
P2093
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P433
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P1433
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Clinical and molecular charact ...... ull function of POU3F4 protein
@en
P2093
P2860
P304
P31
P356
10.1152/PHYSIOLGENOMICS.00100.2009
P433
P478
P50
P577
P5875
P698