A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature

A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature

Abstract Background Primary hypertriglyceridemia (HTG) is a very rare autosomal recessive disorder caused by the mutations of the genes related with triglyceride metabolism, including apolipoproteins and lipoprotein lipase (LPL) among others. Germline mutations in the LPL gene cause familial LPL def...

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Bibliographic Details
Main Authors: Pratibha Pawal, Tukaram Aute
Format: Article
Language:English
Published: SpringerOpen 2023-02-01
Series:Bulletin of the National Research Centre
Subjects:
Lipoprotein lipase
LPL gene
Nonsense variant
Consanguinity
Hypertriglyceridemia
Acute pancreatitis
Online Access:https://doi.org/10.1186/s42269-023-00991-5

Internet

https://doi.org/10.1186/s42269-023-00991-5

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