Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease

BACKGROUND: Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations which have been linked to classic and cardiac variants of FD....

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Detalles Bibliográficos
Autores principales: Dai, Xuantong, Zong, Xue, Pan, Xiaoxia, Lu, Wei, Jiang, Geng-Ru, Lin, Fujun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208104/
https://www.ncbi.nlm.nih.gov/pubmed/35725559
http://dx.doi.org/10.1186/s13023-022-02377-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9208104/
https://www.ncbi.nlm.nih.gov/pubmed/35725559
http://dx.doi.org/10.1186/s13023-022-02377-8

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