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...

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Detalles Bibliográficos
Autores principales: Mogensen, Mie, Skjørringe, Tina, Kodama, Hiroko, Silver, Kenneth, Horn, Nina, Møller, Lisbeth B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
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

Internet

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

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