Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Lignende værker

• Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
  af: Gulsuner, Suleyman, et al.
  Udgivet: (2011)
• Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans
  af: Ozcelik, Tayfun, et al.
  Udgivet: (2008)
• Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion
  af: Ozcelik, Tayfun, et al.
  Udgivet: (2008)
• Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia
  af: Karaca, Sibel, et al.
  Udgivet: (2012)
• A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
  af: Ali, Bassam R, et al.
  Udgivet: (2012)