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

Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early death, and a much milder form called occipital horn syndrome (OHS). Some investigators have proposed that an ATP7A transcript missing exon...

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Detalles Bibliográficos
Autores principales: Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097048/
https://www.ncbi.nlm.nih.gov/pubmed/33967692
http://dx.doi.org/10.3389/fnmol.2021.532291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097048/
https://www.ncbi.nlm.nih.gov/pubmed/33967692
http://dx.doi.org/10.3389/fnmol.2021.532291

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