Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

doi:10.1016/j.ymgme.2010.11.006

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Article

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

Molecular genetics and metabolism - 1 Feb 2011

Fahed Akl C, Safa Raya M, Haddad Fadi F, Bitar Fadi F, Andary Rabih R, Arabi Mariam T, Azar Sami T, Nemer Georges

Abstract excerpt

Familial hypercholesterolemia (FH) is an inherited disease characterized by the deposition of LDL in tissues causing premature atherosclerosis. Many genes are implicated in FH resulting in a large variability in the phenotype. DNA sequencing of the LDLR gene was done for forty patients clinically diagnosed with homozygous FH and forty family members variably affected. Patients underwent noninvasive heart and...

Topics

Adolescent
Adult
Aged
Child
Cholesterol, LDL
Female
Genetic Association Studies
Homozygote
Humans
Hyperlipoproteinemia Type II
Lebanon
Male
Middle Aged
Molecular Typing
Mutation
Pedigree
Receptors, LDL
Young Adult

Source

Open in PubMed

Identifiers

PMID: 21145767
DOI: 10.1016/j.ymgme.2010.11.006

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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