A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis

Author:

Donahue Leah Rae,Chang BO,Mohan Subburaman,Miyakoshi Nao,Wergedal Jon E,Baylink David J,Hawes Norman L,Rosen Clifford J,Ward-Bailey Patricia,Zheng Qing Y,Bronson Roderick T,Johnson Kenneth R,Davisson Muriel T

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference43 articles.

1. Type II collagen mutations in rare and common cartilate diseases;Vikkula;Ann Med,1994

2. The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen;Francomono;Genomics,1987

3. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene;Knowlton;Am J Hum Genet,1898

4. Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1);Anderson;Am J Hum Genet,1990

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