Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the variant effects on LAL deficiency and to improve disease prevalence es...

Descripción completa

Detalles Bibliográficos
Autores principales: del Angel, Guillermo, Hutchinson, Andrew T., Jain, Nina K., Forbes, Chris D., Reynders, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852163/
https://www.ncbi.nlm.nih.gov/pubmed/31180157
http://dx.doi.org/10.1002/humu.23837

Ejemplares similares

Ejemplares similares