Identification of a new missense mutation in Japanese phenylketonuric patients.

doi:10.1007/BF00711510

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Article

Identification of a new missense mutation in Japanese phenylketonuric patients.

Journal of inherited metabolic disease - 1 Jan 1993

Goebel-Schreiner B, Schreiner R

Abstract excerpt

A new missense mutation in the phenylalanine hydroxylase (PAH) gene was identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island. The point mutation was present in 20 of 40 mutant alleles. This was proved by DNA sequence analysis after...

Topics

Alleles
Child
Genetic Testing
Humans
Infant, Newborn
Japan
Molecular Sequence Data
Oligonucleotides
Phenylalanine Hydroxylase
Phenylketonurias
Point Mutation
Polymerase Chain Reaction
White People

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