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

✍ Scribed by Yasmeen, Saiqa; Lund, Katrine; De Paepe, Anne; De Bie, Sylvia; Heiberg, Arvid; Silva, João; Martins, Márcia; Skjørringe, Tina; Møller, Lisbeth B

• Book ID: 127327917
• Publisher: Nature Publishing Group
• Year: 2013
• Tongue: English
• Weight: 327 KB
• Volume: 22
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2013.191