Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test

Menkes disease (MD) is a rare recessively inherited lethal disorder of copper metabolism. The gene ATP7A defective in MD consists of 23 exons and the coding region encompasses 4500 bp. About 300 distinct mutations, representing all types, have been identified in ATP7A. However all mutations identifi...

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Detalles Bibliográficos
Autores principales: Møller, Lisbeth Birk, Horn, Nina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2008
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160000/
https://www.ncbi.nlm.nih.gov/pubmed/21876651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160000/
https://www.ncbi.nlm.nih.gov/pubmed/21876651

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