Article
PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.
Molecular genetics and metabolism - 1 Nov 2001
Mirisola M G, Cali F, Gloria A, Schinocca P, D'Amato M, Cassara G, Leo G D, Palillo L, Meli C, Romano V
Abstract excerpt
The molecular basis of PAH deficiency in the Sicilian population is characterized by a marked heterogeneity, with 44 mutations at a single locus identified by a "gene-scanning" approach and accounting for a detection rate of 91%. The remaining 9% of PAH alleles does not bear mutations in any of the 13 exons and 24 exon/intron junctions. Three mutations IVS10nt-11 G > A, R261Q, and A300S accounted for 30.5%,...
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