| Phenotype: | Achalasia-addisonianism-alacrimia syndrome |
|---|---|
| Dna Change: | c.1331+1G> A (c.IVS14+1G>A) |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | Intron 14 |
| Transcript: | NM_015665.5 |
Cherif Ben Abdallah L, Lakhoua Y, Nagara M, Khiari K, Elouej S, Messaoud O, Bouyacoub Y, Romdhane L, Turki Z, Abdelhak S, Ben Abdallah N, A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism.Horm Res Paediatr. 2014; 0(0):
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S, Mutant WD-repeat protein in triple-A syndrome.Nat. Genet.. 2000; 26(3):332-5