| Title |
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA
|
|---|---|
| Published in |
Human Genetics, September 1992
|
| DOI | 10.1007/bf00210738 |
| Pubmed ID | |
| Authors |
C. S. Mgone, W. G. Lanyon, M. R. Moore, J. M. Connor |
| Abstract |
Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four resulted in amino acid changes. Three of these changes involved highly conserved amino acids, and the remaining one a conserved charge. One of these mutations was predicted to cause structural alterations in the protein product. The application of this method to affected families allows the direct identification of these heterogeneous mutations, thus permitting the unequivocal detection of carriers. |
Mendeley readers
The data shown below were compiled from readership statistics for 5 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 5 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 2 | 40% |
| Unknown | 3 | 60% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 2 | 40% |
| Agricultural and Biological Sciences | 1 | 20% |
| Unknown | 2 | 40% |
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 08 September 2017.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Human Genetics
#933
of 2,951 outputs
Outputs of similar age
#5,223
of 18,608 outputs
Outputs of similar age from Human Genetics
#2
of 3 outputs
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