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Deep intronic variations may cause mild hemophilia A

✍ Scribed by G. CASTAMAN; S. H. GIACOMELLI; M. E. MANCUSO; G. D'ANDREA; R. SANTACROCE; S. SANNA; E. SANTAGOSTINO; P. M. MANNUCCI; A. GOODEVE; F. RODEGHIERO


Book ID
109154820
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
618 KB
Volume
9
Category
Article
ISSN
1538-7933

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Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel