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The molecular landscape of ASPM mutations in primary microcephaly

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a model disease to study human neurogenesis. In affected individuals the brain grows at a reduced rate during fetal life resulting in a small but structurally normal brain and mental retardation. The condition is genetically heterogeneou...

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Detalles Bibliográficos
Autores principales: Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G
Formato: Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2658750/
https://www.ncbi.nlm.nih.gov/pubmed/19028728
http://dx.doi.org/10.1136/jmg.2008.062380