Mutations in purine nucleoside phosphorylase deficiency.
Publication
, Journal Article
Markert, ML; Finkel, BD; McLaughlin, TM; Watson, TJ; Collard, HR; McMahon, CP; Andrews, LG; Barrett, MJ; Ward, FE
Published in: Hum Mutat
1997
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.
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Published In
Hum Mutat
DOI
ISSN
1059-7794
Publication Date
1997
Volume
9
Issue
2
Start / End Page
118 / 121
Location
United States
Related Subject Headings
- Purine-Nucleoside Phosphorylase
- Polymerase Chain Reaction
- Mutation
- Metabolism, Inborn Errors
- Introns
- Humans
- Genetics & Heredity
- Exons
- Alleles
- 3202 Clinical sciences
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APA
Chicago
ICMJE
MLA
NLM
Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson, T. J., Collard, H. R., McMahon, C. P., … Ward, F. E. (1997). Mutations in purine nucleoside phosphorylase deficiency. Hum Mutat, 9(2), 118–121. https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5
Markert, M. L., B. D. Finkel, T. M. McLaughlin, T. J. Watson, H. R. Collard, C. P. McMahon, L. G. Andrews, M. J. Barrett, and F. E. Ward. “Mutations in purine nucleoside phosphorylase deficiency.” Hum Mutat 9, no. 2 (1997): 118–21. https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5.
Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, et al. Mutations in purine nucleoside phosphorylase deficiency. Hum Mutat. 1997;9(2):118–21.
Markert, M. L., et al. “Mutations in purine nucleoside phosphorylase deficiency.” Hum Mutat, vol. 9, no. 2, 1997, pp. 118–21. Pubmed, doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5.
Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE. Mutations in purine nucleoside phosphorylase deficiency. Hum Mutat. 1997;9(2):118–121.
Published In
Hum Mutat
DOI
ISSN
1059-7794
Publication Date
1997
Volume
9
Issue
2
Start / End Page
118 / 121
Location
United States
Related Subject Headings
- Purine-Nucleoside Phosphorylase
- Polymerase Chain Reaction
- Mutation
- Metabolism, Inborn Errors
- Introns
- Humans
- Genetics & Heredity
- Exons
- Alleles
- 3202 Clinical sciences