title: Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
abstract: This study describes the use of cerebral spinal fluid (CSF) and/or urine as source of DNA for mutation analysis combined with multiple displacement amplification. The findings illustrate the opportunities and pitfalls of these methods in the search for identification of the pathogenic mutations in the case that only scarce material is available such as CSF.
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center (PK 1 X009), 1081 HV Amsterdam, The Netherlands.
authors.forename: Efraim H
authors.initials: EH
authors.lastname: Rosenberg
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Keith
authors.initials: K
authors.lastname: Hyland
authors.forename: Barbara
authors.initials: B
authors.lastname: Plecko
authors.forename: Paula J
authors.initials: PJ
authors.lastname: Waters
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stockler-Ipsiroglu
authors.forename: Renata C
authors.initials: RC
authors.lastname: Gallagher
authors.forename: Gunter
authors.initials: G
authors.lastname: Scharer
authors.forename: Johan L K
authors.initials: JL
authors.lastname: Van Hove
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000134:cerebrospinal fluid* / Q000235:genetics / Q000652:urine*; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*
chemical_list: D004247:DNA