Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation

Item
http://www.wikidata.org/entity/Q28277345
A frameshift mutation in GRXCR2 causes recessively inherited hearing lossA POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.Frequency and specific characteristics of the incomplete partition type III anomaly in children.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

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation

Item
http://www.wikidata.org/entity/Q28277345
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին 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
Destabilization and mislocaliz ...... ncation and extension mutation
@ast
Destabilization and mislocaliz ...... ncation and extension mutation
@en
Destabilization and mislocaliz ...... ncation and extension mutation
@nl
type
label
Destabilization and mislocaliz ...... ncation and extension mutation
@ast
Destabilization and mislocaliz ...... ncation and extension mutation
@en
Destabilization and mislocaliz ...... ncation and extension mutation
@nl
prefLabel
Destabilization and mislocaliz ...... ncation and extension mutation
@ast
Destabilization and mislocaliz ...... ncation and extension mutation
@en
Destabilization and mislocaliz ...... ncation and extension mutation
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
Destabilization and mislocaliz ...... ncation and extension mutation
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698