Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

BACKGROUND: Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymorphic GLA haplotypes have been described, it is still unclear whether some of...

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Detalles Bibliográficos
Autores principales: Gervas-Arruga, Javier, Cebolla, Jorge J., Irun, Pilar, Perez-Lopez, Javier, Plaza, Luis, Roche, Jose C., Capablo, Jose L., Rodriguez-Rey, Jose C., Pocovi, Miguel, Giraldo, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558912/
https://www.ncbi.nlm.nih.gov/pubmed/26334996
http://dx.doi.org/10.1186/s12863-015-0267-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558912/
https://www.ncbi.nlm.nih.gov/pubmed/26334996
http://dx.doi.org/10.1186/s12863-015-0267-z

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