Journal article

Identification of four new COL10A1 missense mutations in Schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly

JF BATEMAN, S FREDDI, R MCNEIL, E THOMPSON, P HERMANNS, R SAVARIRAYAN, SR LAMANDE

Human Mutation | Wiley-Liss | Published : 2004