A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
Jouet
M
M
Rosenthal
A
A
MacFarlane
J
J
Kenwrick
S
S
Donnai
D
D
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
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D003545:Cysteine