Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy.

about

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy.

Item

http://www.wikidata.org/entity/Q50326365

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

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@en

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@nl

type

Item

label

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@en

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@nl

prefLabel

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@en

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@nl

P1476

Identification of Two Novel LA ...... Congenital Muscular Dystrophy.

@en

P2093

Chunyu Luo

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

Dingyuan Ma

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

Gang Liu

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

Jian Cheng

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

Jianxin Tan

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

Jing Zhou

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

Jingjing Zhang

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

Yuguo Wang

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

Zhengfeng Xu

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

P2860

Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies.

Form and function: the laminin family of heterotrimers

Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing

Merosin and congenital muscular dystrophy

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.

Merosin-deficient congenital muscular dystrophy type 1A: A case report.

Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment.

The extracellular matrix protein laminin α2 regulates the maturation and function of the blood-brain barrier.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

P304

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

P31

scholarly article

P356

10.3389/FGENE.2018.00043

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

P478

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

P577

2018-02-13T00:00:00Z

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

P698

29487616

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

P932

5816747

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