WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.
about
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.Wolfram syndrome: MAMs' connection?Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
P2860
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P2860
WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@en
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@nl
type
label
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@en
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@nl
prefLabel
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@en
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case.
@nl
P2093
P50
P1433
P1476
WFS1 and non-syndromic low-fre ...... mutation in a Portuguese case
@en
P2093
H R Simões-Teixeira
M Pimenta Machado
P304
P356
10.1016/J.GENE.2014.01.040
P407
P577
2014-01-23T00:00:00Z