Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. - Wikidata - awgldk - TriplyDB

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

http://www.wikidata.org/entity/Q37220537

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Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Oxidative stress, NF-κB and the ubiquitin proteasomal pathway in the pathology of calpainopathy.Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

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Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

http://www.wikidata.org/entity/Q37220537

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on June 2007

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@en

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@nl

type

label

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@en

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@nl

prefLabel

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@en

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@nl

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JKMS.2007.22.3.463

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Journal of Korean Medical Science

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Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

@en

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Chang-Hoon Lee

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Cheol-Min Kim

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Dae-Seong Kim

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Hyang-Suk Kim

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Jin-Hong Shin

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Kyu-Hyun Park

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P2860

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

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463-469

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