A novel domain suggests a ciliary function for ASPM, a brain size determining gene.

A novel domain suggests a ciliary function for ASPM, a brain size determining gene.

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The N-terminal domain of abnormal spindle-like microcephaly-associated protein (ASPM) is identified as a member of a novel family of ASH (ASPM, SPD-2, Hydin) domains. These domains are present in proteins associated with cilia, flagella, the centrosome and the Golgi complex, and in Hydin and OCRL wh...

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Bibliografische gegevens
Hoofdauteur:	Ponting, C
Formaat:	Journal article
Taal:	English
Gepubliceerd in:	2006

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A novel domain suggests a ciliary function for ASPM, a brain size determining gene
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Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive [version 1; referees: 2 approved]
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