The identification of two mis-sense muta
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D. S. Konecki; M. Schlotter; F. K. Trefz; U. Lichter-Konecki
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Article
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1991
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Springer
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English
⚖ 689 KB
DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (El) with phenylketonuria (PKU). The Leu48--, Ser amino acid substitution was asso