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...

Descripción completa

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

Internet

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

Ejemplares similares