Article
Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.
Proceedings of the National Academy of Sciences of the United States of America - 21 Sept 2010
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
Abstract excerpt
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 a...
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