A carregar...
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...
Na minha lista:
| Publicado no: | Front Mol Neurosci |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2021
|
| Assuntos: | |
| Acesso em linha: | 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: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|