Publications:

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Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report.

Bmc Pediatrics

Hewavitharana, Hasani H; Jasinge, Eresha E; Abeysekera, Hiranya H; Wanigasinghe, Jithangi J

Publication Date: 2020-07-08

Variant appearance in text: GLA: 136C>T; H46Y

PubMed Link: 32641113

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2237.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: H46Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Plos One

Lavalle, L L; Thomas, A S AS; Beaton, B B; Ebrahim, H H; Reed, M M; Ramaswami, U U; Elliott, P P; Mehta, A B AB; Hughes, D A DA

Publication Date: 2018

Variant appearance in text: GLA: H46Y

PubMed Link: 29621274

Variant Present in the following documents:

• Main text
• pone.0193550.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: H46Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: H46Y

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 136C>T; H46Y

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Virchows Archiv : An International Journal Of Pathology

Keslová-Veselíková, Jana J; Hůlková, Helena H; Dobrovolný, Robert R; Asfaw, Befekadu B; Poupetová, Helena H; Berná, Linda L; Sikora, Jakub J; Golán, Lubor L; Ledvinová, Jana J; Elleder, Milan M

Publication Date: 2008-06

Variant appearance in text: GLA: H46Y

PubMed Link: 18351385

Variant Present in the following documents:

• Main text
• 428_2008_Article_586.pdf

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