title: Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
authors.affiliation: Institut für Medizinische Genetik, Universitätsklinikum Charité, Berlin, Germany.
authors.forename: P N
authors.initials: PN
authors.lastname: Robinson
authors.forename: A
authors.initials: A
authors.lastname: Buske
authors.forename: R
authors.initials: R
authors.lastname: Neumann
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
mesh_terms: D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D017253:Neurofibromatoses / Q000235:genetics*; D016133:Polymerase Chain Reaction