Diagnosis of copper transport disorders.

Diagnosis of copper transport disorders. Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9 Authors: Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, Kaler SG Abstract 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. PMID: 21735378 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/pubmed/21735378?dopt=Abstract

Source: Current Protocols in Human Genetics - November 25, 2014 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research

More News: Genetics