Cargando…
Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
BACKGROUND: Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened for exon duplications in the ATP7A gene. METHO...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3240829/ https://www.ncbi.nlm.nih.gov/pubmed/22074552 http://dx.doi.org/10.1186/1750-1172-6-73 |