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Fabry disease: classic phenotype in alarge family affected by a novel mutation (A292T) in the α-galactosidase a gene

✍ Scribed by C. Spanu; R.H. Lekanne Deprez; B.J. Poorthuis; C. Nita; C. Drugan; C. Craciun; I. Kacso; V. Todea; V. Tibre; S. Pops


Book ID
117321750
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
129 KB
Volume
29
Category
Article
ISSN
0149-2918

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Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge