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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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| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BMJ Group
2005
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| Ämnen: | |
| Länkar: | 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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