PAFAH1B1基因介绍

  • 凤凰
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PAFAH1B1基因介绍 was created by 凤凰

基因产物:血小板活化因子乙酰水解酶1B调节亚基1。

蛋白功能:在神经元的迁移过程中起重要作用。

相关疾病:皮层下灰质异位(AD)[1];无脑回畸形(AD)[2]; West 综合征 [2]。 


参考文献
  1. Pilz, D.T., et al., Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.Hum Mol Genet, 1999. 8(9): p. 1757-60.
  2. Cardoso, C., et al., Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Hum Mutat, 2002. 19(1): p. 4-15.
  3. Brock, S., W.B. Dobyns, and A. Jansen, PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia, in GeneReviews((R)), M.P. Adam, et al., Editors. 1993: Seattle (WA).
26 May 2022 09:18 #1

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