title: A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
authors.affiliation: 1 Department of Neurology, University of Basel Hospital, 4031 Basel, Switzerland2 Division of Neuropaediatrics, University of Basel Childrens Hospital, 4056 Basel, Switzerland.
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
authors.affiliation: 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria.
authors.forename: Maria
authors.initials: M
authors.lastname: Schabhüttl
authors.affiliation: 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Wieland
authors.affiliation: 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria.
authors.forename: Reinhard
authors.initials: R
authors.lastname: Windhager
authors.affiliation: 4 Institute of Human Genetics, Helmholtz Zentrum München - German Research Center for Environmental Health, 85764 Neuherberg, Germany5 Institute for Human Genetics, Technical University Munich, 81675 Munich, Germany.
authors.forename: Tim M
authors.initials: TM
authors.lastname: Strom
authors.affiliation: 3 Department of Orthopaedics, Medical University Vienna, 1090 Vienna, Austria michaela.auer-grumbach@meduniwien.ac.at.
authors.forename: Michaela
authors.initials: M
authors.lastname: Auer-Grumbach
mesh_terms: D001847:Bone Diseases / Q000235:genetics*; D004721:Endoplasmic Reticulum / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008297:Male
chemical_list: D020558:GTP Phosphohydrolases