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GM3 synthase deficiency in non-Amish patients

Solveig Heide, Marie‐Line Jacquemont, David Cheillan, M. Renouil, Marilyn Tallot, Charles E. Schwartz, J. Miquel, Marc Bintner, Diana Rodriguez, Françoise Darcel, Julien Buratti, Damien Haye, Sandrine Passemard, Domitille Gras, Laurence Perrin, Yline Capri, Bénédicte Gérard, Amélie Piton, Boris Keren, Christel Thauvin‐Robinet, Yannis Duffourd, Laurence Bonhomme‐Faivre, Charlotte Pöe, Anne Pervillé, Delphine Héron, Julien Thévenon, Lionel Arnaud, Éric Leguern, L. La Selva, Annalisa Vetro, Renzo Guerrini, Caroline Nava, Cyril Mignot

2021Genetics in Medicine23 citationsDOI

Topics & Concepts

MicrocephalyEpilepsyFounder effectHaplotypeGeneticsPhenotypeIntellectual disabilityAtrophyLoss functionAlleleMedicineWest SyndromeBiologyGenePsychiatryGlycosylation and Glycoproteins ResearchEscherichia coli research studiesLysosomal Storage Disorders Research
GM3 synthase deficiency in non-Amish patients | Litcius