A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene-Reference-Cited by-同舟云学术

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

Published:2006-09 Issue:3 Volume:79 Page:449-457
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Van Camp Guy,Snoeckx Rikkert L.,Hilgert Nele,van den Ende Jenneke,Fukuoka Hisakumi,Wagatsuma Michio,Suzuki Hiroaki,Erica Smets R.M.,Vanhoenacker Filip,Declau Frank,Van De Heyning Paul,Usami Shin-ichi

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. Hereditary progressive arthro-ophthalmopathy;Stickler;Mayo Clin Proc,1965

2. A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred;Williams;Am J Med Genet,1996

3. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen;Richards;Hum Mol Genet,1996

4. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus;Vikkula;Cell,1995

5. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL2A1;Snead;Eye,1994

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