A genetic modifier of symptom onset in Pompe disease

BACKGROUND: Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant occurs in 90% of Caucasian late onset patients,...

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Detalles Bibliográficos
Autores principales: Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562017/
https://www.ncbi.nlm.nih.gov/pubmed/30922962
http://dx.doi.org/10.1016/j.ebiom.2019.03.048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562017/
https://www.ncbi.nlm.nih.gov/pubmed/30922962
http://dx.doi.org/10.1016/j.ebiom.2019.03.048

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