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Article

Clinical and genetic analysis of a family diagnosed with familial hypobetalipoproteinemia in which the proband was diagnosed with diabetes mellitus.

Atherosclerosis - 1 Apr 2015

Wang Xiaoli, Wang Dongdong, Shan Zhongyan

Abstract excerpt

OBJECTIVE: To perform clinical and genetic analysis of a family with familial hypobetalipoproteinemia in which the proband had been diagnosed with diabetes mellitus. METHODS: Direct sequencing was performed on candidate genes such as APOB, PCSK9, and ANGPTL3. The effect of the mutant gene on lipid profile was investigated using biochemical methods. RESULTS: A novel mutation Y344S in ANGPTL3 was identified but no...

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Identifiers

PMID: 25733326
DOI: 10.1016/j.atherosclerosis.2015.02.031

Genes

ANGPTL3
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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