Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene-Reference-Cited by-同舟云学术

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Published:2000-02 Issue:2 Volume:66 Page:368-377
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Melkoniemi Miia,Brunner Han G.,Manouvrier Sylvie,Hennekam Raoul,Superti-Furga Andrea,Kääriäinen Helena,Pauli Richard M.,van Essen Ton,Warman Matthew L.,Bonaventure Jacky,Miny Peter,Ala-Kokko Leena

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. 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

2. Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1);Ala-Kokko;Biochem J,1995

3. 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

4. Heterotypic type II, IX and XI fibrils: comparison of vitreous and cartilage forms;Brewton,1994

5. The cartilage collagens: a review of their structure, organization, and role in the pathogenesis of experimental arthritis in animals and in human rheumatic disease;Cremer;J Mol Med,1998

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