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Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

✍ Scribed by Irún, P.; Alfonso, P.; Aznarez, S.; Giraldo, P.; Pocovi, M.


Book ID
121965258
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
350 KB
Volume
46
Category
Article
ISSN
0009-9120

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Human plasma chitotriosidase (Chito) is a useful diagnostic and therapeutic biomarker for Type 1 Gaucher disease (GD). However, approximately 40% of Caucasians are heterozygous or homozygous for a common null mutation, c.1049\_1072dup24 (dup24) in the chitotriosidase gene (chitinase 1, CHIT1), that