Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.

doi:10.1111/j.1442-200x.1994.tb03169.x

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Article

Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis.

Acta paediatrica Japonica : Overseas edition - 1 Jun 1994

Yao Y, Matsubara Y, Narisawa K

Abstract excerpt

A non-radioactive single-strand conformation polymorphism (SSCP) method was used to detect various phenylketonuria (PKU) mutations in Japanese and Chinese patients. Arginine413-to-proline (R413P) mutation in exon 12 of the phenylalanine hydroxylase gene was identified in a Japanese patient by thi...

Topics

Asian People
Base Sequence
China
DNA, Single-Stranded
Humans
Infant, Newborn
Japan
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Genetic

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