title: A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
authors.forename: M
authors.initials: M
authors.lastname: Jouet
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: J
authors.initials: J
authors.lastname: MacFarlane
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000595:Amino Acid Sequence; D003545:Cysteine; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D003545:Cysteine