Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab, Stottmann, Rolf W
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2017
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886270/
https://ncbi.nlm.nih.gov/pubmed/29036432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx362
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