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Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing

Familial chylomicronemia syndrome (FCS) is a rare monogenic autosomal recessive disease caused by loss-of-function mutations in genes involved in chylomicron breakdown through hydrolysis of triglycerides into free fatty acids. Patients are often diagnosed in early childhood with extremely high trigl...

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Detalles Bibliográficos
Autores principales:	Liu, Ying, Lan, Zhangzhang, Zhao, Fang, Zhang, Shuangchuan, Zhang, Wenyong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379882/ https://www.ncbi.nlm.nih.gov/pubmed/32765589 http://dx.doi.org/10.3389/fgene.2020.00741

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