Molecular characterization of PKU allele prevalent in southern Europe and Ireland

A novel substitution has been characterized in the phenylalanine hydroxylase (PAH) gene that is linked exclusively to mutant haplotype 6, which is prevalent in southern Europe but rare in northern and eastern Europe. It is a G-to-A transition in intron 10, 11 bases from exon 11. This substitution cr...

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Veröffentlicht in:	Somatic cell and molecular genetics 1991-05, Vol.17 (3), p.303-309
Hauptverfasser:	DASOVICH, M, KONECKI, D, LICHTER-KONECKI, U, EISENSMITH, R. C, GÜTTLER, F, NAUGHTON, E, MULLINS, C, GIOVANNINI, M, RIVA, E, WOO, S. L. C
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Base Sequence Biological and medical sciences DNA Probes Errors of metabolism Gene Frequency Genotype Haplotypes Humans Ireland - epidemiology Italy - ethnology Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Molecular Sequence Data Mutation Pedigree Phenotype Phenylalanine Hydroxylase - genetics Phenylketonurias - diagnosis Phenylketonurias - epidemiology Phenylketonurias - genetics Prevalence Turkey - ethnology
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