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

Ítems similars

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