Publications:

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: GLA: 1115T>C; Leu372Pro

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 1115T>C; L372P

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: L372P

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: L372P

PubMed Link: 29621274

Variant Present in the following documents:

• Main text
• pone.0193550.pdf

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