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Article

Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain.

Clinical genetics - 1 Jul 1996

Chaves F J, Puig O, García-Sogo M, Real J, Gil J V, Ascaso J, Carmena R, Armengod M E

Abstract excerpt

We have performed restriction fragment length polymorphism (RFLP) analysis at the low density lipoprotein receptor (LDLR) locus in order to investigate the molecular genetics of familial hypercholesterolemia (FH) in Spain. Firstly, a sample of 50 unrelated patients with a clinical diagnosis of FH was screened for the presence of major rearrangements at this locus by Southern blot analysis of BglII digested...

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Source

Identifiers

PMID: 8891383
DOI: 10.1111/j.1399-0004.1996.tb02342.x

Genes

LDLR

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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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Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain.PMID 8891383Read ↗

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Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

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