Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Front Mol Neurosci
Autori principali: Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2021
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8097048/
https://ncbi.nlm.nih.gov/pubmed/33967692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2021.532291
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !