Publications:

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

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: 825delC; S276Afs*6

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

View BVdb publication page

Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases

Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-08-26

Variant appearance in text: GLA: 825delC; S276Afs*6

PubMed Link: 32843101

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1494.pdf

View BVdb publication page