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Published in 2018 at "Biology Open"
DOI: 10.1242/bio.030742
Abstract: ABSTRACT Mutations in the AAAS gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and…
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Keywords:
chronic oxidative;
triple syndrome;
mice;
aladin null ... See more keywords