Publications:

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 409delG

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

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Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Plos One

Nakano, Sachie S; Morizane, Yoshihito Y; Makisaka, Noriko N; Suzuki, Toshihiro T; Togawa, Tadayasu T; Tsukimura, Takahiro T; Kawashima, Ikuo I; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2013

Variant appearance in text: GLA: 409del

PubMed Link: 24236025

Variant Present in the following documents:

• Main text
• pone.0078588.pdf

View BVdb publication page