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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Detalles Bibliográficos
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: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2005
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782167/
https://www.ncbi.nlm.nih.gov/pubmed/16100463
http://dx.doi.org/10.3346/jkms.2005.20.4.670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782167/
https://www.ncbi.nlm.nih.gov/pubmed/16100463
http://dx.doi.org/10.3346/jkms.2005.20.4.670

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