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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...
Autores principales: | Shimojima, Keiko, Okumura, Akihisa, Yamamoto, Toshiyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
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 |
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