Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: C223S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: 668G>C; C223S

PubMed Link: 31372342

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• Main text
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Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

Molecular Genetics And Metabolism Reports

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

Publication Date: 2018-03

Variant appearance in text: GLA: C223S

PubMed Link: 29326878

Variant Present in the following documents:

• Main text
• main.pdf

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Definition of Proteasomal Peptide Splicing Rules for High-Efficiency Spliced Peptide Presentation by MHC Class I Molecules.

Journal Of Immunology (Baltimore, Md. : 1950)

Berkers, Celia R CR; de Jong, Annemieke A; Schuurman, Karianne G KG; Linnemann, Carsten C; Meiring, Hugo D HD; Janssen, Lennert L; Neefjes, Jacques J JJ; Schumacher, Ton N M TN; Rodenko, Boris B; Ovaa, Huib H

Publication Date: 2015-11-01

Variant appearance in text: GLA: C223S

PubMed Link: 26401003

Variant Present in the following documents:

• Main text

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