Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements

Am J Med Genet A. 2007 Aug 15;143A(16):1938-40. doi: 10.1002/ajmg.a.31852.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Ethnicity / genetics
  • Genetic Heterogeneity*
  • Humans
  • Mutation*
  • Pedigree
  • Phenylalanine Hydroxylase / deficiency*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / ethnology
  • Phenylketonurias / genetics*
  • United States / ethnology
  • White People / genetics

Substances

  • Phenylalanine Hydroxylase