UNIT 17.9 Diagnosis of Copper Transport Disorders
Published Online: 1 JUL 2011
Copyright © 2011 by John Wiley & Sons, Inc.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
Møller, L. B., Hicks, J. D., Holmes, C. S., Goldstein, D. S., Brendel, C., Huppke, P. and Kaler, S. G. 2011. Diagnosis of Copper Transport Disorders. Current Protocols in Human Genetics. 70:17.9:17.9.1–17.9.33.
- Published Online: 1 JUL 2011
- Published Print: JUL 2011
Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected. Curr. Protoc. Hum. Genet. 70:17.9.1-17.9.33 © 2011 by John Wiley & Sons, Inc.
- Menkes disease;
- Multiplex Ligation-Dependent Probe Amplification;
- multiplex polymerase chain reaction;
- polymerase chain reaction;
- Wilson disease