Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75 → cysteine mutation in the procollagen type ii gene in a kindred of chiloe islanders.-Reference-Cited by-同舟云学术

Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75 → cysteine mutation in the procollagen type ii gene in a kindred of chiloe islanders.

Published:1994-07 Issue:7 Volume:37 Page:1078-1086
ISSN:0004-3591
Container-title:Arthritis & Rheumatism
language:en
Short-container-title:Arthritis & Rheumatism

Author:

Reginato Antonio J.,Passano Gian M.,Neumann Guillermo,Falasca Gerald F.,Diaz-Valdez Marcelo,Jimenez Sergio A.,Williams Charlene J.

Publisher

Wiley

Subject

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

Reference42 articles.

1. : The chondrodysplasias, Practice of Medical Genetics. Edited by . New York, Churchill Livingston, 1990

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

3. Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia

4. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

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