A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b g...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Okumura, Akihisa, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Data Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773278/
https://www.ncbi.nlm.nih.gov/pubmed/26958590
http://dx.doi.org/10.1016/j.dib.2015.07.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773278/
https://www.ncbi.nlm.nih.gov/pubmed/26958590
http://dx.doi.org/10.1016/j.dib.2015.07.017

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