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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Podrobná bibliografie
Hlavní autoři: Shen, J, Eyaid, W, Mochida, G, Al-Moayyad, F, Bodell, A, Woods, C, Walsh, C
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2005
Témata:
Letter to JMG
On-line přístup: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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