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Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease

✍ Scribed by Ryoichi Kase; Uwe Bierfreund; Andreas Klein; Thomas Kolter; Kouichi Utsumi; Kohji Itoh; Konrad Sandhoff; Hitoshi Sakuraba

Book ID: 117617726
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 217 KB
Volume: 1501
Category: Article
ISSN: 0925-4439
DOI: 10.1016/s0925-4439(00)00024-7

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Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. They both expressed marked