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Article

Molecular genetics of familial hypercholesterolemia in Israel.

Human genetics - 1 Nov 1996

Reshef A, Nissen H, Triger L, Hensen T S, Eliav O, Schurr D, Safadi R, Gare M, Leitersdorf E

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a multitude of low density lipoprotein receptor (LDL-R) mutations. The purpose of the current investigation was to define the spectrum of mutations causing FH in Israel and determine their relative distribution among diverse origin groups. A total of 193 FH families were recruited in Israel, 54 of them through the MED PED (Make Early...

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Share to Receptors, LDL
Share to Blotting, Southern
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

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Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 8882879
DOI: 10.1007/s004390050263

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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