Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis-Reference-Cited by-同舟云学术

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

Published:1995-07 Issue:7 Volume:38 Page:999-1004
ISSN:0004-3591
Container-title:Arthritis & Rheumatism
language:en
Short-container-title:Arthritis & Rheumatism

Author:

Ritvaniemi Pertti,Körkkö Jarmo,Bonaventure Jacky,Vikkula Miikka,Hyland James,Paassilta Petteri,Kaitila Ilkka,Kääriäinen Helena,Sokolov Boris P.,Hakala Markku,Mannismäki Pertti,Meerson Elena M.,Klemola Tero,Williams Charlene,Peltonen Leena,Kivirikko Kari I.,Prockop Darwin J.,Ala-kokko Leena

Publisher

Wiley

Subject

Pharmacology (medical),Immunology,Rheumatology,Immunology and Allergy

Reference15 articles.

1. Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

2. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

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

4. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

5. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

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