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:Am. J Hum. Genet.

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

Reference50 articles.

1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for Marshall syndrome [MIM 154780] and Stickler syndrome [MIM 108300, MIM 184840, and MIM 120280])

2. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

4. A type III procollagen gene mutation in a patient with late onset aneurysms

5. Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

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