Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies-Reference-Cited by-同舟云学术

Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies

Published:2015-10-21 Issue:1 Volume:37 Page:7-15
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Barat-Houari Mouna¹²,Sarrabay Guillaume¹²,Gatinois Vincent¹³,Fabre Aurélie¹,Dumont Bruno¹,Genevieve David²³⁴,Touitou Isabelle¹²³

Affiliation:

1. Laboratory of Rare and Autoinflammatory Diseases; CHRU, Montpellier; France

2. Genetics & Immunopathology of Inflammatory Osteoarticular Diseases; INSERM UMR1183; Montpellier France

3. University of Montpellier; Montpellier France

4. Department of Medical Genetics; Reference Center for Developmental Abnormalities and Constitutional Bone Diseases; CHRU Montpellier France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22915/fullpdf

Reference138 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. Stickler syndrome. A mutation in the nonhelical 33’ end of type II procollagen gene;Ahmad;Arch Ophthalmol,1995

3. A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon;Ahmad;Am J Hum Genet,1993

4. [Hip dysplasia and spinal osteochondritis (Scheuermann's disease) in a girl with type II manifesting collagenopathy];Al Kaissi;Orthopade,2013

5. 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

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