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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Front Mol Neurosci |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Frontiers Media S.A.
2021
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| Θέματα: | |
| Διαθέσιμο 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 |
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