Identification of three novel NHS mutations in families with Nance-Horan syndrome
about
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingExome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformCongenital cataracts and their molecular geneticsX-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
P2860
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P2860
Identification of three novel NHS mutations in families with Nance-Horan syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականին հրատարակուած գիտական յօդուած
@hyw
2007 թվականին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@ast
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@en
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@nl
type
label
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@ast
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@en
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@nl
prefLabel
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@ast
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@en
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@nl
P2093
P2860
P1433
P1476
Identification of three novel NHS mutations in families with Nance-Horan syndrome
@en
P2093
Dwight Stambolian
Kristen M Huang
Richard Alan Lewis
Simon P Brooks
P2860
P304
P407
P577
2007-03-27T00:00:00Z