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

✍ Scribed by Tohru Yokoi; Kazuko Shinoda; Ichiro Ohno; Kimitaka Kato; Toshio Miyawaki; Noboru Taniguchi

Publisher: Nature Publishing Group
Year: 1991
Tongue: English
Weight: 573 KB
Volume: 36
Category: Article
ISSN: 1435-232X
DOI: 10.1007/bf01910542

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Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev