title: Estimating the age of rare disease mutations: the example of Triple-A syndrome.
authors.forename: E
authors.initials: E
authors.lastname: Genin
authors.forename: A
authors.initials: A
authors.lastname: Tullio-Pelet
authors.forename: F
authors.initials: F
authors.lastname: Begeot
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: L
authors.initials: L
authors.lastname: Abel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000309:Adrenal Insufficiency / Q000473:pathology*; D000465:Algorithms; D000483:Alleles; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004931:Esophageal Achalasia / Q000473:pathology*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000473:pathology; D018895:Microsatellite Repeats; D009154:Mutation; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics; D013577:Syndrome; D013997:Time Factors
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins