Article

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

2019-01-01

Abstract excerpt

Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but concentrated in exon 7 (26%), 12 (12%), 11 (10%), and 6 (10%). 77...

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Literature Corpus work: 1d0c2ff3-f0e1-5cd3-9b36-2ece43f0b0d1
DOI: 10.1590/2326-4594-jiems-2019-0012

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