Article
Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation.
Scandinavian journal of clinical and laboratory investigation - 1 Feb 1996
Nissen H, Hansen A B, Guldberg P, Petersen N E, Larsen M L, Haghfelt T, Kristiansen K, Hørder M
Abstract excerpt
Familial hypercholesterolaemia (FH) is an autosomal dominant hereditary disease of lipid metabolism that in most families is caused by mutations in the low density lipoprotein receptor (LDLR) gene. Though more than 150 mutations are known, the clinical picture associated with most of these is not known. Genetic FH diagnosis may soon become routine in the setting of genetic counselling, and therefore thorough...
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