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

doi:10.1007/s004390050740

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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...

Topics

Apolipoproteins B
Child
Humans
Hypercholesterolemia
Middle Aged
Mutation
Poland
Receptors, LDL

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