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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

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Bibliographic Details
Published in:	Neurogenetics 2016-01, Vol.17 (1), p.79-82
Main Authors:	Cavallin, Mara, Hubert, Laurence, Cantagrel, Vincent, Munnich, Arnold, Boddaert, Nathalie, Vincent-Delorme, Catherine, Cuvellier, Jean Christophe, Masson, Cecile, Besmond, Claude, Bahi-Buisson, Nadia
Format:	Article
Language:	English
Subjects:	Amino Acid Substitution Biomedical and Life Sciences Biomedicine Child, Preschool Gene Frequency Human Genetics Humans Kinesin - chemistry Kinesin - genetics Letter to Editor Lissencephaly - diagnosis Lissencephaly - genetics Magnetic Resonance Imaging Male Microcephaly - diagnosis Microcephaly - genetics Models, Molecular Molecular Medicine Mutation, Missense Neurosciences Protein Conformation
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