Article
Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population.
Pediatrics - 1 Aug 1995
Assouline L, Levy E, Feoli-Fonseca J C, Godbout C, Lambert M
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is a dominantly-inherited disorder attributable to a defect in the low-density lipoprotein (LDL) receptor gene. Five mutations at this locus have been identified in French-Canadians. In children, it may be difficult to clinically distinguish FH from other forms of polygenic or monogenic hyperlipidemia. Therefore, our objectives were to define the molecular basis of...
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