Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
Rautenstrauss
B
B
Institute for Human Genetics, University of Erlangen, Germany.
Nelis
E
E
Grehl
H
H
Pfeiffer
R A
RA
Van Broeckhoven
C
C
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
D018993:Myelin P0 Protein; D009185:Myelin Proteins; D004247:DNA