ArticleJournal of medical genetics1998
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 37 citations in OpenAlex.
- Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.Molecular genetics & genomic medicine · 2023Article
- Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Molecular genetics & genomic medicine · 2021Article
- Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.PloS one · 2018Article
- Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.Metabolic brain disease · 2017Article
- Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.SpringerPlus · 2015Article
- A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Journal of inherited metabolic disease · 2014Article
- Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran.Indian journal of human genetics · 2012Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to elucidate the molecular basis of phenylketonuria (PKU) in Portugal, a detailed study of the Portuguese mutant phenylalanine hydroxylase (PAH) genes was performed. A total of 222 mutant alleles from 111 PKU families were analysed for 26 mutations and restriction fragment length polymorphismlvariable number tandem repeat (RFLP/VNTR) haplotypes. It was possible to characterise 55% of the mutant alleles, in which 14 different mutations (R261Q, V388M, IVS10nt-11, I65T, P281L, R252W, R158Q, L348V, Y414C, L311P, Y198fsdel22bp, R408W, R270K, and R261X) and three polymorphisms (Q232Q, V245V, and L385L) were identified. A total of 14 different haplotypes were observed, with a high prevalence of haplotype 1 among mutant and normal alleles. The results reported in this study show considerable genetic heterogeneity in the Portuguese PKU population, as has also been described for other southern European populations.
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