Article
Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Molecular genetics and metabolism - 1 Jan 2001
Haefele M J, White G, McDonald J D
Abstract excerpt
Phenylketonuria (PKU) is an inborn error of metabolism that is inherited in an autosomal recessive manner. It arises from a deficiency of phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine and thereby hastening its catabolism. To produce mouse models for the study of PKU, male mice were mutagenized with ethylnitrosourea and their progeny were screened for the elevated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
