Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.

Abstract

Schmid metaphyseal chondrodysplasia (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by short stature, coxa vara, and a waddling gait. Patients with SMCD have mutations in the gene that codes for the alpha-1 chain of collagen X (COL10A1); however, mutation analysis of this gene is hampered by its… (More)

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@article{Stratakis1996DideoxyfingerprintingA, title={Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.}, author={Constantine A. Stratakis and Zolt{\'a}n Orb{\'a}n and A. L. Burns and Alessandra Vottero and Constantin S Mitsiades and Sebastian Marx and Val Abbassi and Georgia Chrousos}, journal={Biochemical and molecular medicine}, year={1996}, volume={59 2}, pages={112-7} }