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Article

LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

Human genetics - 1 May 1998

Górski B, Kubalska J, Naruszewicz M, Lubiński J

Abstract excerpt

A group of 30 Polish families with clinical signs of familial hypercholesterolemia was studied for the presence of germ-line mutations in the LDL-R and ApoB-100 genes. Screening of the LDL-R gene was performed at the genomic DNA level by single-strand conformation polymorphism analysis of all 18 exons and extended by sequencing of polymerase chain reaction (PCR) products showing abnormalities. The occurrence of...

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Identifiers

PMID: 9654205
DOI: 10.1007/s004390050740

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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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