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- Title
Familial Hypercholesterolemia: A Family with Divergence of Clinical Phenotype and Biochemical Genotype Based on Fibroblast Studies.
- Authors
Keller, Christiane F.; Spengel, F.; Wieczorek, A.; Wolfram, G.; Zöllner, N.
- Abstract
Two children exhibiting the classical signs of homozygous familial hypercholesterolemia (FHC) are described. However, their mother appeared to be normal with respect to serum lipids while their father had heterozygous FHC. Biochemical evaluation revealed the children to be heterozygotes as their father. Apparently, discrepancies between clinical phenotype and biochemical genotype may occur in FHC. Copyright © 1981 S. Karger AG, Basel
- Publication
Annals of Nutrition & Metabolism, 1981, Vol 25, Issue 2, p79
- ISSN
0250-6807
- Publication type
Article
- DOI
10.1159/000176481