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A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene
Sellick, Gabrielle S., Hoornaert, Kristein P., Mortier, Geert R., King, Catherine, Dolling, Claire L., Newbury-Ecob, Ruth A., Gargan, Martin, Hall, Christine M., Houlston, Richard S., Smithson, SarahVolume:
15
Language:
english
Journal:
Clinical Dysmorphology
DOI:
10.1097/01.mcd.0000220616.55402.03
Date:
October, 2006
File:
PDF, 309 KB
english, 2006