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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Data Brief
Egile Nagusiak: Shimojima, Keiko, Okumura, Akihisa, Yamamoto, Toshiyuki
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4773278/
https://ncbi.nlm.nih.gov/pubmed/26958590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dib.2015.07.017
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