Early onset calpainopathy with normal non-functional calpain 3 level.

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Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.

P2860

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P2860

Early onset calpainopathy with normal non-functional calpain 3 level.

Item

http://www.wikidata.org/entity/Q47844188

description

2006 nî lūn-bûn

@nan

2006年の論文

@ja

2006年学术文章

@wuu

2006年学术文章

@zh-cn

2006年学术文章

@zh-hans

2006年学术文章

@zh-my

2006年学术文章

@zh-sg

2006年學術文章

@yue

2006年學術文章

@zh

2006年學術文章

@zh-hant

name

Early onset calpainopathy with normal non-functional calpain 3 level.

@en

Early onset calpainopathy with normal non-functional calpain 3 level.

@nl

type

Item

label

Early onset calpainopathy with normal non-functional calpain 3 level.

@en

Early onset calpainopathy with normal non-functional calpain 3 level.

@nl

prefLabel

Early onset calpainopathy with normal non-functional calpain 3 level.

@en

Early onset calpainopathy with normal non-functional calpain 3 level.

@nl

P1476

Early onset calpainopathy with normal non-functional calpain 3 level.

@en

P2093

C Fiorillo

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E Del Giudice

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F Vitale

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M Aguennoz

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

M Fanin

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

S Aurino

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

P2860

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Calpainopathy-a survey of mutations and polymorphisms.

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Clinical variability in calpainopathy: what makes the difference?

P304

304-306

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P31

scholarly article

P356

10.1017/S001216220600065X

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P433

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

P478

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

P50

Vincenzo Nigro

Roberta Lanzillo

Lucio Santoro

P577

2006-04-01T00:00:00Z

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

P698

16542520

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

Early onset calpainopathy with normal non-functional calpain 3 level.

about

P2860

P2860

Early onset calpainopathy with normal non-functional calpain 3 level.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698