Congenital cataracts in two siblings with Wolfram syndrome.
about
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.Longitudinal hearing loss in Wolfram syndrome.
P2860
Congenital cataracts in two siblings with Wolfram syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Congenital cataracts in two siblings with Wolfram syndrome.
@en
Congenital cataracts in two siblings with Wolfram syndrome.
@nl
type
label
Congenital cataracts in two siblings with Wolfram syndrome.
@en
Congenital cataracts in two siblings with Wolfram syndrome.
@nl
prefLabel
Congenital cataracts in two siblings with Wolfram syndrome.
@en
Congenital cataracts in two siblings with Wolfram syndrome.
@nl
P2093
P2860
P1433
P1476
Congenital cataracts in two siblings with Wolfram syndrome.
@en
P2093
Marci M Lesperance
Marilyn B Mets
Rebecca B Mets
Sarah B Emery
P2860
P304
P356
10.3109/13816810.2010.516056
P577
2010-12-01T00:00:00Z