Hydrocephalus and spastic paraplegia results from a donor splice site mutation (2872 + 1G to A) in the LICAM gene in a Venezuelan pedigree

Autor: Claes, Stephan, Aguirre, T., Simosa, V., Bustos, T., Lander, R., Piras, M., Legius, E., Cassiman, J.J., Raeymaekers, Peter
Jazyk: angličtina
Rok vydání: 1998
Zdroj: Human mutation
ISSN: 1059-7794
Databáze: OpenAIRE