Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

por Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup
Publicado 2021

Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour

por Mogensen, Mie, Skjørringe, Tina, Kodama, Hiroko, Silver, Kenneth, Horn, Nina, Møller, Lisbeth B
Publicado 2011