title: Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
authors.affiliation: Institute for Human Genetics, University of Erlangen, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: H
authors.initials: H
authors.lastname: Grehl
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D018993:Myelin P0 Protein; D009185:Myelin Proteins; D004247:DNA