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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Autores principales: 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
Lenguaje:Inglês
Publicado: The Korean Academy of Medical Sciences 2005
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Original Article
Acceso en línea: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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