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...

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Detalles Bibliográficos
Autores principales: Li, Yakun, Hu, Man, Han, Lin, Feng, Lifang, Yang, Luhong, Chen, Xiaoqian, Du, Tingting, Yao, Hui, Chen, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8927541/
https://www.ncbi.nlm.nih.gov/pubmed/35309119
http://dx.doi.org/10.3389/fgene.2022.831133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8927541/
https://www.ncbi.nlm.nih.gov/pubmed/35309119
http://dx.doi.org/10.3389/fgene.2022.831133

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