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...

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Bibliografiske detaljer

Principais autores:	Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2019-07-01
Serier:	Annals of Hepatology
Fag:	Lysosomal acid lipase deficiency LIPA gene Pediatrics Lysosomal disease Liver
Online adgang:	http://www.sciencedirect.com/science/article/pii/S1665268119300699
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