Estimating the age of rare disease mutations: the example of Triple-A syndrome

J Med Genet. 2004 Jun;41(6):445-9. doi: 10.1136/jmg.2003.017962.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adrenal Insufficiency / pathology*
  • Algorithms
  • Alleles
  • Chromosomes, Human, Pair 12 / genetics
  • Esophageal Achalasia / pathology*
  • Gene Frequency
  • Haplotypes
  • Humans
  • Lacrimal Apparatus Diseases / pathology
  • Microsatellite Repeats
  • Mutation*
  • Nerve Tissue Proteins
  • Nuclear Pore Complex Proteins
  • Proteins / genetics
  • Syndrome
  • Time Factors

Substances

  • AAAS protein, human
  • Nerve Tissue Proteins
  • Nuclear Pore Complex Proteins
  • Proteins