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Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

✍ Scribed by Park, J.K. ;Koprivica, V. ;Andrews, D.Q. ;Madike, V. ;Tayebi, N. ;Stone, D.L. ;Sidransky, E.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
78 KB
Volume
99
Category
Article
ISSN
0148-7299

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## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2

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Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).

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Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m