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A Spontaneous Mutation in Contactin 1 in the Mouse

Davisson, Muriel T.; Bronson, Roderick Terry; Tadenev, Abigail L. D.; Motley, William W.; Krishnaswamy, Arjun Sriram; Seburn, Kevin L.; Burgess, Robert W. (Public Library of Science, 2011)

Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether ...