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

A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2003
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862909/
https://ncbi.nlm.nih.gov/pubmed/12968670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1359/jbmr.2003.18.9.1612
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