Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

about

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Item

http://www.wikidata.org/entity/Q37618496

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on January 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

@en

Ullrich Congenital Muscular Dystrophy

@nl

type

Item

label

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

@en

Ullrich Congenital Muscular Dystrophy

@nl

prefLabel

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

@en

Ullrich Congenital Muscular Dystrophy

@nl

P1476

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

@en

P2093

Ariana Kariminejad

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

Bita Bozorgmehr

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

Bita Jebelli

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

Celine Ledeuil

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

Corine Gartioux

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

Mohammad-Hassan Kariminejad

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

Pascale Richard

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

Shahriar Nafissi

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

Urtizberea Andoni

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

Valérie Allamand

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

P2860

Collagen VI related muscle disorders

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

Autosomal recessive Bethlem myopathy.

Congenital, hypotonic-sclerotic muscular dystrophy.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Congenital muscular dystrophies: 1997 update.

Autosomal recessive inheritance of classic Bethlem myopathy.

P304

15-22

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

P31

scholarly article

P433

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

P478

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

P577

2013-01-01T00:00:00Z

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

P698

24665301

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

P921

Ullrich congenital muscular dystrophy

birth defect

P932

3943075

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