Mutations in purine nucleoside phosphorylase deficiency.
Published
Journal Article
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A174P and G190V, a single codon deletion, delta I129, and a point mutation in intron 3 which leads to aberrant splicing and creation of a premature stop codon in exon 4 (286-18G-->A). Of the previously reported mutations, E89K was found in one additional patient, and R234P was found in 3 unrelated patients, making R234P the most common mutation reported to date in this disease.
Full Text
Duke Authors
Cited Authors
- Markert, ML; Finkel, BD; McLaughlin, TM; Watson, TJ; Collard, HR; McMahon, CP; Andrews, LG; Barrett, MJ; Ward, FE
Published Date
- 1997
Published In
Volume / Issue
- 9 / 2
Start / End Page
- 118 - 121
PubMed ID
- 9067751
Pubmed Central ID
- 9067751
International Standard Serial Number (ISSN)
- 1059-7794
Digital Object Identifier (DOI)
- 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5
Language
- eng
Conference Location
- United States