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Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

✍ Scribed by Junaid Shabbeer; Makiko Yasuda; Edlira Luca; Robert J Desnick

Book ID: 117735359
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 107 KB
Volume: 76
Category: Article
ISSN: 1096-7192
DOI: 10.1016/s1096-7192(02)00012-4

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Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo