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A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia

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 doublecortin (DCX) in families and sporadic cases. M...

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Bibliografische gegevens
Hoofdauteurs: Kim, Myeong-Kyu, Park, Man-Seok, Kim, Byeong-Chae, Cho, Ki-Hyun, Kim, Young-Seon, Kim, Jin-Hee, Lee, Min-Cheol, Heo, Tag, Kim, Eun-Young
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Academy of Medical Sciences 2005
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2782167/
https://ncbi.nlm.nih.gov/pubmed/16100463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2005.20.4.670
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