Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
Coucke
P
P
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
Vits
L
L
Van Camp
G
G
Serville
F
F
Lyonnet
S
S
Kenwrick
S
S
Rosenthal
A
A
Wehnert
M
M
Munnich
A
A
Willems
P J
PJ
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
D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex