| Title |
Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family
|
|---|---|
| Published in |
Journal of Molecular Medicine, December 1991
|
| DOI | 10.1007/bf01815434 |
| Pubmed ID | |
| Authors |
B. S. Gathof, A. Sahota, U. Gresser, J. Chen, P. J. Stambrook, J. A. Tischfield, N. Zöllner |
| Abstract |
We examined the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in homozygous-deficient, identical twin brothers who were born to non-consanguineous German parents. DNA was isolated from blood, and the APRT gene was amplified by PCR, subcloned into M13, and sequenced completely. A single T insertion between bases 1831-1832 or 1832-1833 was identified. This alters the consensus sequence at the exon 4 - intron 4 spice donor site and leads to aberrant splicing. The same mutation has been described previously in two affected brothers from Belgium, and the Indianapolis group has also identified it in two other, unrelated Caucasian patients. Thus, this mutation may be a common cause of APRT deficiency in the Caucasian population. |
Mendeley readers
The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 38% |
| Professor | 2 | 25% |
| Student > Ph. D. Student | 1 | 13% |
| Student > Doctoral Student | 1 | 13% |
| Unknown | 1 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 2 | 25% |
| Agricultural and Biological Sciences | 2 | 25% |
| Medicine and Dentistry | 2 | 25% |
| Unknown | 2 | 25% |
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 31 May 2019.
All research outputs
#8,535,684
of 25,374,917 outputs
Outputs from Journal of Molecular Medicine
#656
of 2,137 outputs
Outputs of similar age
#12,389
of 61,553 outputs
Outputs of similar age from Journal of Molecular Medicine
#3
of 14 outputs
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