A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Lignende værker

• Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
  af: Yasmeen, Saiqa, et al.
  Udgivet: (2014)
• Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
  af: Donsante, Anthony, et al.
  Udgivet: (2007)
• Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network
  af: Dierick, Herman A., et al.
  Udgivet: (1997)
• Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
  af: Møller, Lisbeth Birk, et al.
  Udgivet: (2021)
• A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
  af: Ronce, N, et al.
  Udgivet: (1997)