Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

BACKGROUND: In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and 57 newborns from 54 families with 26 FD‐asso...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Autores principales: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Matsumoto, Shirou, Takada, Fumio, Tsuboi, Kazuya, Ohtake, Akira, Endo, Fumio, Nakamura, Kimitoshi
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667298/
https://ncbi.nlm.nih.gov/pubmed/33016649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1502
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares