A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

Abstract

SummaryFabry disease is an X-linked disorder accompanied with accumulation of glycosphingolipids resulting from the deficient activity of the lysosomal hydrolase, α-galactosidase A (α-GalA). In the present study, mRNA for α-GalA in fibroblasts from an 11-year-old Japanese patient with Fabry disease was examined using the reverse transcriptase-polymerase… (More)
DOI: 10.1007/BF01910542

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@article{Yokoi1991A3S, title={A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease}, author={Tohru Yokoi and Kazuko Shinoda and Ichiro Ohno and Kimitaka Kato and Toshio Miyawaki and Noboru Taniguchi}, journal={Japanese Journal of Human Genetics}, year={1991}, volume={36}, pages={245-250} }