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Atlas of Genetic Diagnosis and Counseling || Metachromatic Leukodystrophy

โœ Scribed by Chen, Harold


Book ID
121739711
Publisher
Springer US
Year
2012
Weight
201 KB
Category
Article
ISBN
1461410371

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Molecular genetics of metachromatic leuk
โœ Volkmar Gieselmann; Joel Zlotogora; Ann Harris; David A. Wenger; C. Phillip Morr ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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