Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy

Shi, Xiao-Lei, Yang, Qi, Pu, Na, Li, Xiao-Yao, Chen, Wei-Wei, Zhou, Jing, Li, Gang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N., Chen, Jian-Min and Li, Wei-Qin 2020. Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular Genetics and Genomic Medicine 8 (3) , e1048. 10.1002/mgg3.1048

[img]
Preview
PDF - Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

Download (1MB) | Preview

Abstract

Acute pancreatitis in pregnancy (APIP) is a life‐threatening disease for both mother and fetus. To date, only three patients with recurrent hypertriglyceridemia‐induced APIP (HTG‐APIP) have been reported to carry rare variants in the lipoprotein lipase (LPL) gene, which encodes the key enzyme responsible for triglyceride (TG) metabolism. Coincidently, all three patients harbored LPL variants on both alleles and presented with complete or severe LPL deficiency.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
Publisher: Wiley
ISSN: 2324-9269
Date of First Compliant Deposit: 31 January 2020
Date of Acceptance: 23 October 2019
Last Modified: 06 Apr 2020 13:16
URI: http://orca-mwe.cf.ac.uk/id/eprint/129224

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics