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Article

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Dec 2015

Cefalù Angelo B, Spina Rossella, Noto Davide, Valenti Vincenza, Ingrassia Valeria, Giammanco Antonina, Panno Maria D, Ganci Antonina, Barbagallo Carlo M, Averna Maurizio R

Abstract excerpt

OBJECTIVE: Cyclic AMP responsive element-binding protein 3-like 3 (CREB3L3) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. APPROACH AND...

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Identifiers

PMID: 26427795
DOI: 10.1161/ATVBAHA.115.306170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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