The phenotypic spectrum ofCOL2A1mutations

Author:

Nishimura Gen,Haga Nobuhiko,Kitoh Hiroshi,Tanaka Yoko,Sonoda Toru,Kitamura Miho,Shirahama Shuya,Itoh Taichi,Nakashima Eiji,Ohashi Hirofumi,Ikegawa Shiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon;Ahmad;Am J Hum Genet,1993

2. Single base mutation in the type II procollagen (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia;Ala-Kokko;Proc Natl Acad Sci USA,1990

3. Osteogenesis Imperfecta

4. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells;Chan;J Biol Chem,1991

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