DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

Five sequence polymorphisms at the phenylalanine hydroxylase (PAH) gene locus were observed to be in tight association with specific alleles of this locus. Since these polymorphisms can be detected using polymerase chain reaction (PCR) methodology, application of a combination of these polymorphisms...

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Veröffentlicht in:	Human genetics 1994-09, Vol.94 (3), p.307-310
Hauptverfasser:	LICHTER-KONECKI, U, SCHLOTTER, M, KONECKI, D. S
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Aminoacid disorders Base Sequence Biological and medical sciences DNA - analysis Errors of metabolism Exons Haplotypes Humans Introns man Medical sciences Metabolic diseases PAH gene phenylalanine 4-monooxygenase Phenylalanine Hydroxylase - genetics Polymerase Chain Reaction Polymorphism, Genetic restriction fragment length polymorphism
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