Estimating the age of rare disease mutations: the example of Triple-A syndrome.
Genin
E
E
Tullio-Pelet
A
A
Begeot
F
F
Lyonnet
S
S
Abel
L
L
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
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins