Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. - Wikidata - awgldk - TriplyDB

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

http://www.wikidata.org/entity/Q34143979

about

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Identification of three novel NHS mutations in families with Nance-Horan syndrome Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes.The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.X-linked cataract and Nance-Horan syndrome are allelic disorders.Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

P2860

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P2860

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

http://www.wikidata.org/entity/Q34143979

description

2002 nî lūn-bûn

@nan

2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@ast

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@en

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@nl

type

label

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@ast

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@en

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@nl

prefLabel

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@ast

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@en

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@nl

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P356

SJ.EJHG.5200846

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European Journal of Human Genetics

P1476

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

@en

P2093

Andrea Nemeth

http://www.w3.org/2001/XMLSchema#string

Annick Rossi

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Benoît Dessay

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Carina Wallgren-Pettersson

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Claude Moraine

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Dorothy Trump

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Ian Walpole

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James K Hartsfield

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John Burn

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Julie Tranchemontagne

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P2860

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

Positional cloning of the gene associated with X-linked juvenile retinoschisis

The Nance-Horan syndrome

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.

A locus for isolated cataract on human Xp.

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

P2888

sj.ejhg.5200846

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516-520

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scholarly article

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10.1038/SJ.EJHG.5200846

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9

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10

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Brunella Franco

Josseline Kaplan

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2002-09-01T00:00:00Z

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11214148

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