Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy-Reference-Cited by-同舟云学术

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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Published:2023-07 Issue:7 Volume:33 Page:539-545
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Barington Maria^ORCID,Dunø Morten,Birkedal Ulf,Vissing John,Born Alfred Peter,Krag Thomas,Hansen Thomas van Overeem,Østergaard Elsebet

Funder

Copenhagen University Hospital

Gentofte Hospital

Publisher

Elsevier BV

Subject

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

Reference42 articles.

1. Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH;Heiskanen;Genomics,1995

2. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen;Weil;Am J Hum Genet,1988

3. Electron-microscopical approach to a structural model of intima collagen;Furthmayr;Biochem J,1983

4. Molecular assembly, secretion, and matrix deposition of type VI collagen;Engvall;J Cell Biol,1986

5. Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI;Tillet;Eur J Biochem,1994

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