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Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree

✍ Scribed by Stephan Claes; Tania Aguirre; Venancio Simosa; Tania Bustos; Rafael Lander; Marta Piras; Eric Legius; Jean-Jacques Cassiman; Peter Raeymaekers

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 186 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110177

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