ArticleAmerican journal of human genetics1995
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 50 citations in OpenAlex.
- Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing.PloS one · 2021Article
- Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.Human genetics · 2019Article
- Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.European journal of human genetics : EJHG · 2015Article
- Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.JIMD reports · 2014Article
- Neurometabolic disorders and dysfunction in autism spectrum disorders.Current neurology and neuroscience reports · 2009Review
- Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.American journal of ophthalmology · 2007Article
- The origin and spread of the HFE-C282Y haemochromatosis mutation.Human genetics · 2004Article
- Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.Journal of medical genetics · 1997Article
- Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?Molecular pathology : MP · 1997Review
- Sequence variation at the phenylalanine hydroxylase gene in the British Isles.American journal of human genetics · 1997Article
- Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.American journal of human genetics · 1996Article
- The incidence and characterization of phenylketonuric patients in Estonia.Journal of inherited metabolic disease · 1996Article
- Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.Journal of medical genetics · 1995Article
- Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.American journal of human genetics · 1995Article
- Genetic archaeology and the origins of the Irish population.Irish journal of medical scienceArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The relative frequency of the common phenylalanine hydroxylase (PAH) mutation R408W and its associations with polymorphic RFLP, VNTR, and short-tandem-repeat (STR) sites in the PAH gene were examined in many European populations and one representative North American population of defined European descent. This mutation was found to cluster in two regions: in northwest Europe among Irish and Scottish peoples, and in eastern Europe, including the Commonwealth of Independent States. This allele was significantly less frequent in intervening populations. In eastern European populations, the R408W mutation is strongly associated with RFLP haplotype 2, the three-copy VNTR allele (VNTR 3), and the 240-bp STR allele. In northwestern European populations, it is strongly associated with RFLP haplotype 1, the VNTR allele containing eight repeats (VNTR 8), and the 244-bp STR allele. An examination of the linkage between the R408W mutation and highly polymorphic RFLP, VNTR, and STR haplotypes suggests that recurrence is the most likely mechanism to account for the two different major haplotype associations of R408W in Europe.
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7825588PMC1801324W126491413What OpenQuestion holds
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