Article
A single origin of phenylketonuria in Yemenite Jews.
Nature - 8 Mar 1990
Avigad S, Cohen B E, Bauer S, Schwartz G, Frydman M, Woo S L, Niny Y, Shiloh Y
Abstract excerpt
Phenylketonuria (PKU) is a metabolic disease caused by recessive mutations of the gene encoding the hepatic enzyme phenylalanine hydroxylase (PAH). The incidence of PKU varies widely across different geographic areas, and is highest (about 1 in 5,000 live births) in Ireland and western Scotland,...
Topics
- Alleles
- Chromosome Deletion
- Demography
- Exons
- Female
- Humans
- Israel
- Jews
- Male
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Restriction Fragment Length