Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
Eri Arikawa-Hirasawa,Alexander H. Le,Ichizo Nishino,Ikuya Nonaka,Nicola C. Ho,Clair A. Francomano,Prasanthi Govindraj,John R. Hassell,Joseph M. Devaney,Jürgen Spranger,Roger E. Stevenson,Susan Iannaccone,Marinos C. Dalakas,Yoshihiko Yamada
The American Journal of Human Genetics
Copyright © 2002, Elsevier
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