MovDisordV3, PascalFrancis, Curation, bibRecord, 001765

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Identifieur interne : 001765 ( PascalFrancis/Curation ); précédent : 001764; suivant : 001766

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Auteurs : Rob J. Forsyth [Royaume-Uni] ; Artemis D. Gika [Royaume-Uni] ; Ieke Ginjaar [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0448804

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Mutation, Pedigree, Récepteur glycine, Hyperekplexie.

English descriptors

KwdEn :
- Glycine receptor, Hyperekplexia, Mutation, Nervous system diseases, Pedigree.

Abstract

We report the identification of a novel Y228C mutation within the Ml trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.

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A11	`01`	`1`		`@1 FORSYTH (Rob J.)`
A11	`02`	`1`		`@1 GIKA (Artemis D.)`
A11	`03`	`1`		`@1 GINJAAR (Ieke)`
A11	`04`	`1`		`@1 TIJSSEN (Marina A. J.)`
A14	`01`			`@1 Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University @2 Newcastle upon Tyne NE1 4LP @3 GBR @Z 1 aut.`
A14	`02`			`@1 Paediatric Neurology Department, St George's Hospital @2 Tooting, London SW17 0QT @3 GBR @Z 2 aut.`
A14	`03`			`@1 Center for Human and Clinical Genetics, Leiden University Medical Center @2 2300 RC Leiden @3 NLD @Z 3 aut.`
A14	`04`			`@1 Department of Neurology H2-237, Academic Medical Centre, University of Amsterdam @2 1100 DD Amsterdam @3 NLD @Z 4 aut.`
A20				`@1 1643-1645`
A21				`@1 2007`
A23	`01`			`@0 ENG`
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C01	`01`		`ENG`	`@0 We report the identification of a novel Y228C mutation within the Ml trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.`
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C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`02`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`02`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`03`	`X`	`FRE`	`@0 Pedigree @5 10`
C03	`03`	`X`	`ENG`	`@0 Pedigree @5 10`
C03	`03`	`X`	`SPA`	`@0 Pedigrí @5 10`
C03	`04`	`X`	`FRE`	`@0 Récepteur glycine @5 11`
C03	`04`	`X`	`ENG`	`@0 Glycine receptor @5 11`
C03	`04`	`X`	`SPA`	`@0 Receptor glicina @5 11`
C03	`05`	`X`	`FRE`	`@0 Hyperekplexie @4 CD @5 96`
C03	`05`	`X`	`ENG`	`@0 Hyperekplexia @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Muscle strié pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Striated muscle disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Músculo estriado patología @5 37`
N21				`@1 295`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0448804

Le document en format XML

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<author><name sortKey="Forsyth, Rob J" sort="Forsyth, Rob J" uniqKey="Forsyth R" first="Rob J." last="Forsyth">Rob J. Forsyth</name>
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<s2>Newcastle upon Tyne NE1 4LP</s2>
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<country>Royaume-Uni</country>
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<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
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<series><title level="j" type="main">Movement disorders</title>
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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri