Type 1 Gaucher disease: null and hypomor
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Marie E. Grace; Manisha Balwani; Irina Nazarenko; Ainu Prakash-Cheng; Robert J.
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Article
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2007
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John Wiley and Sons
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English
⚖ 191 KB
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