A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations-Reference-Cited by-同舟云学术

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

Published:2006-10 Issue:9-10 Volume:16 Page:571-582
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jimenez-Mallebrera C.,Maioli M.A.,Kim J.,Brown S.C.,Feng L.,Lampe A.K.,Bushby K.,Hicks D.,Flanigan K.M.,Bonnemann C.,Sewry C.A.,Muntoni F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference32 articles.

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3. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy;Lampe;J Med Genet,2005

4. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy;Baker;Hum Mol Genet,2005

5. Alpha 1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains;Bonaldo;J Biol Chem,1989

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