Limb Girdle Muscular Dystrophies - Wikidata - awgldk - TriplyDB

Limb Girdle Muscular Dystrophies

Limb Girdle Muscular Dystrophies

http://www.wikidata.org/entity/Q57390065

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Limb Girdle Muscular Dystrophies

http://www.wikidata.org/entity/Q57390065

description

wetenschappelijk artikel

@nl

наукова стаття, опублікована у вересні 2010

@uk

name

Limb Girdle Muscular Dystrophies

@en

Limb Girdle Muscular Dystrophies

@nl

type

label

Limb Girdle Muscular Dystrophies

@en

Limb Girdle Muscular Dystrophies

@nl

prefLabel

Limb Girdle Muscular Dystrophies

@en

Limb Girdle Muscular Dystrophies

@nl

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Q57390065-A372C66D-C35B-48F7-AEBB-3DBA13103AA8

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9781444328394.CH23

P1476

Limb Girdle Muscular Dystrophies

@en

P2093

B. Eymard

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

F. Norwood

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

K. Bushby

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

M. de Visser

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P2860

Myotilin is mutated in limb girdle muscular dystrophy 1A

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases

Making sense of the limb-girdle muscular dystrophies.

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

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363-371

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scholarly article

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10.1002/9781444328394.CH23

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

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Hanns Lochmüller

P577

2010-09-06T00:00:00Z

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