A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

Samankaltaisia teoksia

• Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
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  Julkaistu: (2021)
• A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease
  Tekijä: Dagenais, Susan L., et al.
  Julkaistu: (2001)
• Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
  Tekijä: Yasmeen, Saiqa, et al.
  Julkaistu: (2014)
• ExonSkipDB: functional annotation of exon skipping event in human
  Tekijä: Kim, Pora, et al.
  Julkaistu: (2020)
• Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant
  Tekijä: Koboldt, Daniel C., et al.
  Julkaistu: (2020)