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Article

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.

Proceedings of the National Academy of Sciences of the United States of America - 25 Oct 1994

Koivisto U M, Palvimo J J, Jänne O A, Kontula K

Abstract excerpt

We have identified a Finnish family with a typical phenotype of heterozygous familial hypercholesterolemia (FH) due to a single-base substitution in the proximal Sp1 binding site of the low density lipoprotein (LDL) receptor gene promoter. The mutation, a C-->T substitution at nucleotide -43, cosegregated with the FH phenotype in six available family members and abolished binding of Sp1 transcription factor to...

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Identifiers

PMID: 7937987
DOI: 10.1073/pnas.91.22.10526
PMCID: PMC45054

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A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.PMID 7937987Read ↗

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