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Diagnosis of Copper Transport Disorders
| Content Provider | Scilit |
|---|---|
| Author | Møller, Lisbeth B. Hicks, Julia D. Holmes, Courtney S. Goldstein, David S. Brendel, Cornelia Huppke, Peter Kaler, Stephen G. |
| Copyright Year | 2011 |
| Description | Journal: Current Protocols in Human Genetics 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. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156244/pdf |
| ISSN | 19348266 |
| e-ISSN | 19348258 |
| DOI | 10.1002/0471142905.hg1709s70 |
| Journal | Current Protocols in Human Genetics |
| Issue Number | 1 |
| Volume Number | 70 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2011-07-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: Current Protocols in Human Genetics Menkes Disease Multiplex Ligation‐dependent Probe Amplification Multiplex Polymerase Chain Reaction Polymerase Chain Reaction Wilson Disease |
| Content Type | Text |
| Subject | Genetics Genetics (clinical) |