Novel Mutations and Hot‐Spots in Patients with Purine Nucleoside Phosphorylase Deficiency
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1081/NCN-200027647
Reference12 articles.
1. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
2. Purine Nucleoside Phosphorylase. 1. Structure−Function Studies
3. Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient
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