POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

Am J Med Genet A. 2006 Mar 15;140(6):633-5. doi: 10.1002/ajmg.a.31112.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alleles
  • Craniosynostoses / pathology*
  • DNA Mutational Analysis
  • Exons / genetics
  • Gene Frequency
  • Genes, Recessive / genetics*
  • Genotype
  • Humans
  • Mutation, Missense*
  • NADPH-Ferrihemoprotein Reductase / genetics*
  • Polymorphism, Single Nucleotide
  • Syndrome
  • Synostosis / pathology

Substances

  • NADPH-Ferrihemoprotein Reductase