Litcius/Paper detail

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Alban Ziegler, Katharina Steindl, Ashleigh S. Hanner, Rajesh Kumar Kar, Clément Prouteau, Anne Boland, Jean‐François Deleuze, Christine Coubes, Stéphane Bezieau, Sébastien Küry, Isabelle Maystadt, Morgane Le Mao, Guy Lenaers, Benjamin Navet, Laurence Faivre, Frédéric Tran Mau‐Them, Paolo Zanoni, Wendy K. Chung, Anita Rauch, Dominique Bonneau, Myung Hee Park

2022The American Journal of Human Genetics32 citationsDOIOpen Access PDF

Topics & Concepts

DHPSBiologyGeneticsPhenotypeGeneAllelePlasmodium falciparumMalariaImmunologyPolyamine Metabolism and ApplicationsEpigenetics and DNA MethylationAmino Acid Enzymes and Metabolism