- A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
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Kim MK, Park MS, Kim BC, Cho KH, Kim YS, Kim JH, Lee MC, Heo T, Kim EY
- KMID: 1712752
- J Korean Med Sci.
- 2005 Aug;20(4):670-673.
- doi: 10.3346/jkms.2005.20.4.670
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in... -
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