Frequencies of the most common mutations responsible for phenylketonuria in Poland.

doi:10.1006/mcpr.1994.1044

Back to search

Article

Frequencies of the most common mutations responsible for phenylketonuria in Poland.

Molecular and cellular probes - 1 Aug 1994

Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T

Abstract excerpt

We screened 91 Polish phenylketonuric (PKU) children for the presence of 18 common mutations in the phenylalanine hydroxylase (PAH) gene, and 75.7% of PAH alleles were identified. The R408W mutation accounted for 54.9% of PAH mutant alleles. In the other 20.8%, eight mutations were detected: R158...

Topics

Alleles
Gene Frequency
Genetic Testing
Humans
Infant, Newborn
Mutation
Neonatal Screening
Phenylalanine Hydroxylase
Phenylketonurias
Poland

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.