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

Abstract

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 identified so far in the exon 2 to exon 7, corresponding to 1869 bp… (More)

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Cite this paper

@inproceedings{Mller2008MutationDI, title={Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test}, author={Lisbeth Birk M\oller and Nina Horn}, booktitle={Clinical medicine. Pathology}, year={2008} }