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    Hum Genet. 1997 Feb;99(2):275-8.

    Two novel PAH gene mutations detected in Italian phenylketonuric patients.

    Argiolas A, Bosco P, Calì F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V.

    Laboratorio di Genetica Molecolare, OASI Istituto per la Ricerca sul Ritardo Mentale e l'Involuzione Cerebrale (I.R.C.C.S.), Troina (EN), Italy.

    We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the second mutant allele of family F1, has been previously detected in Chinese patients. Haplotype analysis showed that the latter mutation is linked to the same haplotype (H4) in both Chinese and Italian patients, suggesting a common origin. In vivo assessment of mutation severity indicates that N207S is associated with classic PKU. The identification of these two new mutations further extends the remarkable heterogeneity of the PAH locus in the Italian population.

    PMID: 9048935 [PubMed - indexed for MEDLINE]

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