A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report

Lignende værker

• Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline
  af: Pulvers, Jeremy N., et al.
  Udgivet: (2010)
• Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease
  af: Li, Rui, et al.
  Udgivet: (2017)
• Abnormal spindle-like microcephaly-associated protein (ASPM) contributes to the progression of Lung Squamous Cell Carcinoma (LSCC) by regulating CDK4
  af: Yuan, Ya-Jing, et al.
  Udgivet: (2020)
• The molecular landscape of ASPM mutations in primary microcephaly
  af: Nicholas, A K, et al.
  Udgivet: (2009)
• A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
  af: AKBARIAZAR, Elinaz, et al.
  Udgivet: (2013)