Publications:

Lentivirus-mediated gene therapy for Fabry disease.

Nature Communications

Khan, Aneal A; Barber, Dwayne L DL; Huang, Ju J; Rupar, C Anthony CA; Rip, Jack W JW; Auray-Blais, Christiane C; Boutin, Michel M; O'Hoski, Pamela P; Gargulak, Kristy K; McKillop, William M WM; Fraser, Graeme G; Wasim, Syed S; LeMoine, Kaye K; Jelinski, Shelly S; Chaudhry, Ahsan A; Prokopishyn, Nicole N; Morel, Chantal F CF; Couban, Stephen S; Duggan, Peter R PR; Fowler, Daniel H DH; Keating, Armand A; West, Michael L ML; Foley, Ronan R; Medin, Jeffrey A JA

Publication Date: 2021-02-25

Variant appearance in text: GLA: Gln321Arg

PubMed Link: 33633114

Variant Present in the following documents:

• Main text
• 41467_2021_Article_21371.pdf

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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: Q321R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: Q321R

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page