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A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

✍ Scribed by Hung-Kun Chao; Kwang-Jen Hsiao; Tsung-Sheng Su


Publisher
Springer
Year
2001
Tongue
English
Weight
142 KB
Volume
108
Category
Article
ISSN
0340-6717

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Recurrent nonsense mutation in exon 7 of
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A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an indep