| Title |
The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
|
|---|---|
| Published in |
Human Genetics, August 1991
|
| DOI | 10.1007/bf00197152 |
| Pubmed ID | |
| Authors |
DavidS. Konecki, Uta Lichter-Konecki |
| Abstract |
The hyperphenylalaninemic disorders of classic phenylketonuria (PKU), mild phenylketonuria, and hyperphenylalaninemia (HPA), result from a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH) or its cofactor (tetrahydrobiopterin). Use of the complementary DNA of this enzyme has allowed the establishment of a restriction fragment length polymorphism (RFLP) haplotype-analysis system. This haplotype analysis system provides the means for determination of mutant PAH alleles in most affected families and is the basis for mutational analysis of the PKU locus. This review is focused on two major areas of current PKU research: (1) the use of DNA haplotype analysis in the study of the population genetics of PAH deficiency, and (2) the study of genotypes, and their various combinations, as a means of explaining and predicting the phenotypic variability observed for the disorders of PAH deficiency. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 5% |
| Norway | 1 | 5% |
| Unknown | 19 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 24% |
| Other | 3 | 14% |
| Student > Master | 3 | 14% |
| Professor > Associate Professor | 2 | 10% |
| Professor | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 5 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 29% |
| Medicine and Dentistry | 5 | 24% |
| Biochemistry, Genetics and Molecular Biology | 4 | 19% |
| Engineering | 1 | 5% |
| Unknown | 5 | 24% |
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 Human Genetics
#933
of 2,951 outputs
Outputs of similar age
#4,785
of 17,010 outputs
Outputs of similar age from Human Genetics
#1
of 12 outputs
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