High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1-Reference-Cited by-同舟云学术

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Published:2006-07 Issue:7 Volume:27 Page:696-704
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Richards Allan J.,Laidlaw Maureen,Whittaker Joanne,Treacy Becky,Rai Harjeet,Bearcroft Philip,Baguley David M.,Poulson Arabella,Ang Alan,Scott John D.,Snead Martin P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc Natl Acad Sci USA,1991

2. A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro ophthalmopathy) is also a premature termination codon;Ahmad;Am J Hum Genet,1993

3. 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

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

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