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

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). Mutations in th...

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Main Authors: Yasmeen, Saiqa, Lund, Katrine, De Paepe, Anne, De Bie, Sylvia, Heiberg, Arvid, Silva, João, Martins, Márcia, Skjørringe, Tina, Møller, Lisbeth B
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953917/
https://ncbi.nlm.nih.gov/pubmed/24002164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.191
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