Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix-Reference-Cited by-同舟云学术

Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

Published:2000-11 Issue:5 Volume:67 Page:1083-1094
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Richards Allan J.,Baguley David M.,Yates John R.W.,Lane Carol,Nicol Mary,Harper Peter S.,Scott John D.,Snead Martin P.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference49 articles.

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2. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia;Ala-Kokko;Proc Natl Acad Sci USA,1990

3. A type III procollagen gene mutation in a patient with late onset aneurysms;Anderson;Matrix Biol,1994

4. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am J Hum Genet,1999

5. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene;Ballo;Am J Med Genet,1998

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