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Multiple mutations underlying familial hypercholesterolemia in the South African population

โœ Scribed by Howard E. Henderson; Maritha J. Kotze; G. Michael B. Berger


Publisher
Springer
Year
1989
Tongue
English
Weight
499 KB
Volume
83
Category
Article
ISSN
0340-6717

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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 conditi