Clinical aspects of Emery-Dreifuss muscular dystrophy.

about

Clinical aspects of Emery-Dreifuss muscular dystrophy.

Item

http://www.wikidata.org/entity/Q55262202

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@en

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@nl

type

Item

label

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@en

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@nl

prefLabel

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@en

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@nl

P1476

Clinical aspects of Emery-Dreifuss muscular dystrophy.

@en

P2093

Agnieszka Madej-Pilarczyk

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

P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin

Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Unusual type of benign x-linked muscular dystrophy

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

P304

268-274

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

P31

scholarly article

P356

10.1080/19491034.2018.1462635

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

P433

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

P478

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

P577

2018-01-01T00:00:00Z

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

P698

29633897

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

P932

5973255

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