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