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...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Matsumoto, Shirou, Takada, Fumio, Tsuboi, Kazuya, Ohtake, Akira, Endo, Fumio, Nakamura, Kimitoshi
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Original Articles
On-line přístup: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
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