Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance-Reference-Cited by-同舟云学术

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

Published:2008-06 Issue:6 Volume:29 Page:809-822
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lampe A.K.,Zou Y.,Sudano D.,O'Brien K.K.,Hicks D.,Laval S.H.,Charlton R.,Jimenez-Mallebrera C.,Zhang R.-Z.,Finkel R.S.,Tennekoon G.,Schreiber G.,van der Knaap M.S.,Marks H.,Straub V.,Flanigan K.M.,Chu M.-L.,Muntoni F.,Bushby K.M.D.,Bönnemann C.G.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference52 articles.

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4. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry;Brockington;Prenat Diagn,2004

5. Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules;Burg;J Biol Chem,1996

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