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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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2005
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Acesso em linha: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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