Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
Nishimura G; Nakashima E; Mabuchi A; Shimamoto K; Shimamoto T; Shimao Y; Nagai T; Yamaguchi T; Kosaki R; Ohashi H; Makita Y; Ikegawa S; Journal Of Medical Genetics, 2004, vol. 41, issue 1, p 75, ISSN 14686244. ISBN 14686244.

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