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ASPM mutations identified in patients with primary microcephaly and seizures

Background: Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1–6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures ha...

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Detalhes bibliográficos
Main Authors: Shen, J, Eyaid, W, Mochida, G, Al-Moayyad, F, Bodell, A, Woods, C, Walsh, C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736131/
https://ncbi.nlm.nih.gov/pubmed/16141009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027706
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