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Article

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.

Human mutation - 1 Jan 1996

Benlian P, de Gennes J L, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde J P, Federspiel M C, Bertrand V, Bernard C, Bereziat G

Abstract excerpt

Variability in the expression of monogenic lipid disorders may be observed in patients carrying the same DNA mutation, suggesting possible genetic or environmental interactions. Our objective was to investigate the genotype-phenotype relationships in two unrelated French patients with an aggravated expression of a dominantly inherited hypercholesterolemia. In probands, segregation analysis complemented by DNA...

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PMID: 8723684
DOI: 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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