An Overview and Update ofATP7AMutations Leading to Menkes Disease and Occipital Horn Syndrome
Author:
Affiliation:
1. Applied Human Molecular Genetics; Kennedy Center; Copenhagen University Hospital; Rigshospitalet; Glostrup; Denmark
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22266/fullpdf
Reference136 articles.
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2. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical MD;Ambrosini;Hum Mol Genet,1999
3. An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A;Banci;J Mol Biol,2005
4. Menkes’ kinky-hair syndrome: report of a case in a female infant;Barton;Neurology,1983
5. X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization;Beck;Clin Genet,1994
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