Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Por Yasmeen, Saiqa, Lund, Katrine, De Paepe, Anne, De Bie, Sylvia, Heiberg, Arvid, Silva, João, Martins, Márcia, Skjørringe, Tina, Møller, Lisbeth B
Publicado em 2014