Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency
Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications include acute pancreatitis. Gene LPL is one of causati...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Frontiers Media S.A.
2022-03-01
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| Sraith: | Frontiers in Genetics |
| Ábhair: | |
| Rochtain ar líne: | https://www.frontiersin.org/articles/10.3389/fgene.2022.831133/full |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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