Mutational spectrum in German patients with phenylalanine hydroxylase deficiency

Abstract excerpt

We report on the spectrum and frequency of mutations in the phenylalanine hydroxylase (PAH) gene in 226 German families with PAH deficiency, most of them from Southern Germany. A total of 88 mutations were identified in 428 out of 438 mutant PAH alleles including one novel stop mutation L293X (c.878T>A). In three families, two phenylketonuria (PKU) mutations were found in cis, and in one family a de novo mutation...

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