| Title |
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient
|
|---|---|
| Published in |
Human Genetics, November 1996
|
| DOI | 10.1007/s004390050290 |
| Pubmed ID | |
| Authors |
U. Pannicke, Peter Tuchschmid, Wilhelm Friedrich, C. R. Bartram, Klaus Schwarz |
| Abstract |
Four percent of human severe combined immunodeficiency cases are caused by a deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we investigated the molecular basis for this rare autosomal recessive disease. Sequence analyses led to the identification of two new mutations in the PNP gene: an A to G transition in exon 5, which leads to the substitution of tyrosine 192 by a cysteine residue, and a 1-bp deletion in exon 6, which causes premature translation termination of the PNP protein. Both PNP mutations affect predicted major structural motifs of the protein and result in post-translation instability of the enzyme. |
Mendeley readers
The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 6 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 33% |
| Student > Ph. D. Student | 2 | 33% |
| Professor > Associate Professor | 1 | 17% |
| Unknown | 1 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Immunology and Microbiology | 2 | 33% |
| Biochemistry, Genetics and Molecular Biology | 1 | 17% |
| Economics, Econometrics and Finance | 1 | 17% |
| Medicine and Dentistry | 1 | 17% |
| Unknown | 1 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 August 2017.
All research outputs
#8,534,976
of 25,374,647 outputs
Outputs from Human Genetics
#1,014
of 2,957 outputs
Outputs of similar age
#8,616
of 26,995 outputs
Outputs of similar age from Human Genetics
#4
of 13 outputs
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