All reported non-canonical splice site variants in GLA cause aberrant splicing

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been repo...

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Detalles Bibliográficos
Autores principales: Okada, Eri, Horinouchi, Tomoko, Yamamura, Tomohiko, Aoto, Yuya, Suzuki, Ryota, Ichikawa, Yuta, Tanaka, Yu, Masuda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Ishiko, Shinya, Nagano, China, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Matsuo, Masafumi, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432374/
https://www.ncbi.nlm.nih.gov/pubmed/37254000
http://dx.doi.org/10.1007/s10157-023-02361-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432374/
https://www.ncbi.nlm.nih.gov/pubmed/37254000
http://dx.doi.org/10.1007/s10157-023-02361-x

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