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

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DC Field	Value	Language
dc.contributor.author	Pawal, Pratibha	vi
dc.contributor.other	Aute, Tukaram	vi
dc.date.accessioned	2023-03-31T07:36:50Z	-
dc.date.available	2023-03-31T07:36:50Z	-
dc.date.issued	2023	-
dc.identifier.issn	2522-8307	vi
dc.identifier.uri	http://tailieuso.tlu.edu.vn/handle/DHTL/12862	-
dc.description.abstract	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 deficiency with an incidence of about 1:1,000,000. It is often diagnosed in childhood and consanguinity is common.	vi
dc.description.uri	https://link.springer.com/article/10.1186/s42269-023-00991-5	vi
dc.language	en_US	vi
dc.relation.ispartofseries	Bulletin of the National Research Centre, Volume 47 (2023), Article number: 16	vi
dc.subject	Lipoprotein lipase	vi
dc.subject	LPL gene	vi
dc.subject	Nonsense variant	vi
dc.subject	Consanguinity	vi
dc.subject	Hypertriglyceridemia	vi
dc.subject	Acute pancreatitis	vi
dc.title	A nonsense germline mutation in the LPL gene in a 1-month-old infant: case report with review of literature	vi
dc.type	BB	vi
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