Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

Introduction and Objectives: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease caused by mutations in the LIPA gene, located on the long arm of chromosome 10 (10q23.31). Up until now, more than 59 mutations have been described and which are the cause of a very wide clinical...

Full description

Bibliographic Details
Main Authors: Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla
Format: Article
Language:English
Published: Elsevier 2019-07-01
Series:Annals of Hepatology
Subjects:
Lysosomal acid lipase deficiency
LIPA gene
Pediatrics
Lysosomal disease
Liver
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268119300699

Internet

http://www.sciencedirect.com/science/article/pii/S1665268119300699

Similar Items