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Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

Mutations in ASPM (abnormal spindle-like microcephaly associated) cause primary microcephaly in humans, a disorder characterized by a major reduction in brain size in the apparent absence of nonneurological anomalies. The function of the Aspm protein in neural progenitor cell expansion, as well as i...

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Autors principals: Pulvers, Jeremy N., Bryk, Jarosław, Fish, Jennifer L., Wilsch-Bräuninger, Michaela, Arai, Yoko, Schreier, Dora, Naumann, Ronald, Helppi, Jussi, Habermann, Bianca, Vogt, Johannes, Nitsch, Robert, Tóth, Attila, Enard, Wolfgang, Pääbo, Svante, Huttner, Wieland B.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2944708/
https://ncbi.nlm.nih.gov/pubmed/20823249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1010494107
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