Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
about
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.X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4De 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.Molecular and clinical studies of X-linked deafness among Pakistani families.Hereditary non-syndromic sensorineural hearing loss: transforming silence to soundCharacterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearingMissense mutations of human homeoboxes: A review.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Molecular diagnostics for hereditary hearing loss in children.Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.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
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P2860
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
description
1995 nî lūn-bûn
@nan
1995 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@ast
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@en
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@nl
type
label
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@ast
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@en
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@nl
prefLabel
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@ast
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@en
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@nl
P2093
P356
P1476
Further mutations in Brain 4 ( ...... in the X-linked deafness, DFN3
@en
P2093
E M Sankila
F P Cremers
H H Ropers
H Kääriäinen
M Bitner-Glindzicz
P Turnpenny
S M van der Maarel
Y J de Kok
P304
P356
10.1093/HMG/4.8.1467
P407
P577
1995-08-01T00:00:00Z