Article
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
American journal of medical genetics - 11 Feb 1997
Ballo R, Briggs M D, Cohn D H, Knowlton R G, Beighton P H, Ramesar R S
Abstract excerpt
Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the milder Ribbing types. In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the condition. The mutation, C1594G, implies a N523K substitution, altering a residue at the carboxyl-terminal end of the...
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