Article
Origins of hyperphenylalaninemia in Israel.
European journal of human genetics : EJHG - 1 Jan 1994
Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith R C, Brand N, Schwartz G, Rey F, Munnich A, Woo S L, Shiloh Y
Abstract excerpt
Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disea...
Topics
- Amino Acid Metabolism, Inborn Errors
- DNA Mutational Analysis
- Genetic Variation
- Genotype
- Haplotypes
- Humans
- Israel
- Jews
- Middle East
- Molecular Epidemiology
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Point Mutation
- Polymorphism, Restriction Fragment Length