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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Principais autores:	Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-04-01
coleção:	Frontiers in Molecular Neuroscience
Assuntos:	ATP7A Menkes disease occipital horn syndrome genotype-phenotype splice site mutations splice-variant
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/full
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