Associated Papers
Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
Milenković T et al.
European Journal of Pediatrics, 2008
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
Krumbholz M et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
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