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: D231G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

International Journal Of Molecular Sciences

Duarte, Ana Joana AJ; Ribeiro, Diogo D; Moreira, Luciana L; Amaral, Olga O

Publication Date: 2018-10-31

Variant appearance in text: GLA: D231G

PubMed Link: 30384423

Variant Present in the following documents:

• Main text
• ijms-19-03409.pdf

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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: D231G

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 692A>G; D231G

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Experimental & Molecular Medicine

Park, Jung Young JY; Kim, Gu Hwan GH; Kim, Sung Su SS; Ko, Jung Min JM; Lee, Jin Joo JJ; Yoo, Han Wook HW

Publication Date: 2009-01-31

Variant appearance in text: GLA: D231G

PubMed Link: 19287194

Variant Present in the following documents:

• Main text

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