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The genetic heterogenicity of metachromatic leukodystrophy

✍ Scribed by Kihara, Hayato


Book ID
123544941
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
92 KB
Volume
3
Category
Article
ISSN
0387-7604

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Molecular genetics of metachromatic leuk
✍ Volkmar Gieselmann; Joel Zlotogora; Ann Harris; David A. Wenger; C. Phillip Morr πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 897 KB

Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip