Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

doi:10.1016/0021-9150(94)90095-7

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Article

Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

Atherosclerosis - 1 Dec 1994

Nissen H, Hansen A B, Guldberg P, Petersen N E, Larsen M L, Haghfelt T, Kristiansen K, Hørder M

Abstract excerpt

We performed a screening of exon 9 of the low density lipoprotein receptor (LDLR) gene in 14 Danish families with familial hypercholesterolemia (FH) using the denaturing gradient gel electrophoresis (DGGE) technique. In one of the probands from these families an abnormal band pattern in the gradient gel was detected. Subsequent DGGE analysis of the family of this index patient revealed that the DGGE pattern...

Topics

Adolescent
Adult
Aged
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Codon
Denmark
Electrophoresis, Gel, Two-Dimensional
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hyperlipoproteinemia Type II

Male

Middle Aged

Molecular Sequence Data

Mutation

Myocardial Ischemia

Source

Open in PubMed

Identifiers

PMID: 7718023
DOI: 10.1016/0021-9150(94)90095-7

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7718023-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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