title: Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
authors.affiliation: Department of Medical Genetics, University of Antwerp-UIA, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: L
authors.initials: L
authors.lastname: Vits
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: M
authors.initials: M
authors.lastname: Wehnert
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D001483:Base Sequence; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007438:Introns; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D012326:RNA Splicing; D014960:X Chromosome
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex