Cargando…
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy
BACKGROUND: 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 e...
Autores principales: | 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, Li, Wei‐Qin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057096/ https://www.ncbi.nlm.nih.gov/pubmed/31962008 http://dx.doi.org/10.1002/mgg3.1048 |
Ejemplares similares
-
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis
por: Li, Xiao-Yao, et al.
Publicado: (2020) -
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis
por: Li, Xiaoyao, et al.
Publicado: (2018) -
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis
por: Yang, Qi, et al.
Publicado: (2021) -
Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL
por: Ding, Yinyuan, et al.
Publicado: (2011) -
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking
por: Chen, Wei-Wei, et al.
Publicado: (2019)