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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Academy of Medical Sciences 2005
Konular:
Original Article
Online Erişim: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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