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Title: Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree
Authors: Claes, Stephan ×
Aguirre, T
Simosa, V
Bustos, T
Lander, R
Piras, M
Legius, Eric
Cassiman, Jean-Jacques
Raeymaekers, Petra #
Issue Date: 1998
Series Title: Human mutation. vol:Suppl 1 pages:S240-1
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Research in GastroIntestinal Disorders
Research Group Psychiatry
Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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