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Article

First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.

Angiology - 1 May 2013

Al-Hinai Ali T, Al-Abri Abdulrahim, Al-Dhuhli Humoud, Al-Waili Khalid, Al-Sabti Hilal, Al-Yaarubi Saif, Al-Hashmi Khamis, Banerjee Yajnavalka, Al-Zakwani Ibrahim, Al-Rasadi Khalid

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani...

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Source

Identifiers

PMID: 23162007
DOI: 10.1177/0003319712465171

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23162007-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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