Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. [electronic resource]
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Jul 2013
- 361-5 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1532-2130
10.1016/j.ejpn.2012.12.006 doi
Animals Child, Preschool Computational Biology DNA Mutational Analysis Female Humans Lissencephaly--complications Magnetic Resonance Imaging Malformations of Cortical Development--complications Models, Molecular Mutation--genetics Tubulin--genetics