Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended t...

Descripción completa

Detalles Bibliográficos
Autores principales: Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., van der Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851659/
https://www.ncbi.nlm.nih.gov/pubmed/31254424
http://dx.doi.org/10.1002/humu.23854

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851659/
https://www.ncbi.nlm.nih.gov/pubmed/31254424
http://dx.doi.org/10.1002/humu.23854

Ejemplares similares