Genetic and Clinical Advances of Congenital Muscular Dystrophy.

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Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

P2860

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Genetic and Clinical Advances of Congenital Muscular Dystrophy.

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http://www.wikidata.org/entity/Q46563168

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@en

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@nl

type

Item

label

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@en

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@nl

prefLabel

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@en

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@nl

P1476

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

@en

P2093

Hui Xiong

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

Xiao-Na Fu

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

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Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

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Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

Mutations in the integrin alpha7 gene cause congenital myopathy

Sequence and tissue distribution of the integrin alpha 9 subunit, a novel partner of beta 1 that is widely distributed in epithelia and muscle

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

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2624-2631

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scholarly article

review article

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10.4103/0366-6999.217091

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English

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130

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ScienceSource

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2017-11-01T00:00:00Z

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2017-11-05T00:00:00Z

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29067961

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muscular dystrophy

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5678264

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Genetic and Clinical Advances of Congenital Muscular Dystrophy.

about

P2860

P2860

Genetic and Clinical Advances of Congenital Muscular Dystrophy.

description

name

type

label

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P1433

P1476

P2093

P275

P2860

P304

P31

P356

P407

P433

P478

P5008

P577

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P304

P31

P356

P407

P433

P478

P5008

P577

P698

P921

P932