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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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Main Authors: Shen, J, Eyaid, W, Mochida, G, Al-Moayyad, F, Bodell, A, Woods, C, Walsh, C
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2005
Teme:
Online dostop: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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