Purine Nucleoside Phosphorylase Deficiency: A Mutation Update
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2011.630852
Reference18 articles.
1. NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITY
2. Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency
3. Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.
4. Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen
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