Molecular characterization of phenylketonuria in Japanese patients.

doi:10.1007/s004390050877

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Article

Molecular characterization of phenylketonuria in Japanese patients.

Human genetics - 1 Nov 1998

Okano Y, Asada M, Kang Y, Nishi Y, Hase Y, Oura T, Isshiki G

Abstract excerpt

We characterized phenylalanine hydroxylase (PAH) genotypes of Japanese patients with phenylketonuria (PKU) and hyperphenylalaninemia (HPA). PKU and HPA mutations in 41 Japanese patients were identified by denaturing gradient gel electrophoresis and direct sequencing, followed by restriction fragm...

Topics

Animals
COS Cells
Genotype
Humans
Japan
Mutation
Phenotype
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Regression Analysis
Sequence Analysis, DNA
Transfection

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