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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The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge
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