Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss-Reference-Cited by-同舟云学术

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

Published:2013-08-06 Issue:11 Volume:50 Page:765-771
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Richards Allan J,Fincham Gregory S,McNinch Annie,Hill David,Poulson Arabella V,Castle Bruce,Lees Melissa M,Moore Anthony T,Scott John D,Snead Martin P

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference42 articles.

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4. Cloning and sequencing of pro-α1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue;Bernard;J Biol Chem,1988

5. The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization;Kimura;J Biol Chem,1989

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