Publications:

Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Molecular Genetics And Metabolism Reports

Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y

Publication Date: 2019-09

Variant appearance in text: GLA: 3G>A; M1I

PubMed Link: 31372342

Variant Present in the following documents:

• Main text
• main.pdf

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Frequency of de novo mutations in Japanese patients with Fabry disease.

Molecular Genetics And Metabolism Reports

Kobayashi, Masahisa M; Ohashi, Toya T; Iizuka, Sayoko S; Kaneshiro, Eiko E; Higuchi, Takashi T; Eto, Yoshikatsu Y; Ida, Hiroyuki H

Publication Date: 2014

Variant appearance in text: GLA: 3G>A

PubMed Link: 27896102

Variant Present in the following documents:

• Main text

View BVdb publication page