| Title |
Heterogeneity of phenylketonuria at the clinical, protein and DNA levels
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, May 1989
|
| DOI | 10.1007/bf01799577 |
| Pubmed ID | |
| Authors |
R G Cotton |
| Abstract |
The cloning of the phenylalanine hydroxylase gene and cDNA has potentially allowed the complete characterization of patients with phenylketonuria and already many mutations have been defined. Parents of patients now have the option of prenatal diagnosis. The 18 mutations defined so far indicate enormous heterogeneity not only within particular populations but also between populations. These mutations give little indication as to the locations of the amino acid residues important in enzyme function but one-third of the mutations are in exon 7 which may be indicating the importance of the region coded by this exon in the protein. |
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 % |
|---|---|---|
| Student > Ph. D. Student | 1 | 17% |
| Researcher | 1 | 17% |
| Student > Master | 1 | 17% |
| Unknown | 3 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 1 | 17% |
| Medicine and Dentistry | 1 | 17% |
| Engineering | 1 | 17% |
| Unknown | 3 | 50% |
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 28 April 2013.
All research outputs
#7,451,942
of 22,782,096 outputs
Outputs from Journal of Inherited Metabolic Disease
#684
of 1,841 outputs
Outputs of similar age
#4,058
of 14,454 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#2
of 2 outputs
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So far Altmetric has tracked 1,841 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
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