Publications:

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Journal Of Personalized Medicine

Jurickova, Katarina K; Jungova, Petra P; Petrovic, Robert R; Mattosova, Slavomira S; Hlavata, Tereza T; Kostalova, Ludmila L; Hlavata, Anna A

Publication Date: 2022-06-01

Variant appearance in text: GLA: 801+1G>A

PubMed Link: 35743707

Variant Present in the following documents:

• Main text
• jpm-12-00922.pdf

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Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: 801+1G>A

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

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Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease.

Frontiers In Genetics

Varela, Patrícia P; Caldas, Myrtes Martins MM; Pesquero, João Bosco JB

Publication Date: 2019

Variant appearance in text: GLA: 801+1G>A

PubMed Link: 31611903

Variant Present in the following documents:

• Main text
• fgene-10-00783.pdf

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A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Frontiers In Genetics

Li, Ping P; Zhang, Lijuan L; Zhao, Na N; Xiong, Qiuhong Q; Zhou, Yong-An YA; Wu, Changxin C; Xiao, Han H

Publication Date: 2019

Variant appearance in text: GLA: 801+1G>A

PubMed Link: 30853972

Variant Present in the following documents:

• Main text
• fgene-10-00060.pdf

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