PKU mutation G46S is associated with inc
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Hans Geir Eiken; Per M. Knappskog; Jaran Apold; Torgeir Flatmark
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Article
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1996
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John Wiley and Sons
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English
β 946 KB
The G46S mutation in the phenylalanine hydroxylase (PAH) gene was identified by fluorescence-based single-strand conformation polymorphism (F-SSCP) analysis on phenylketonuria (PKU) haplotype 5.9 alleles. DNA sequencing of PAH exon 2 revealed a G-to-A transition in cDNA position 136. G46S mutations