Menkes disease: Underlying genetic defect and new diagnostic possibilities
Author:
Affiliation:
1. ; Department of Medical Genetics, Panum Institute; University of Copenhagen; Denmark
2. ; The John F. Kennedy Institute; Glostrup Denmark
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005479307906/fullpdf
Reference44 articles.
1. Menkes' kinky- hair syndrome: report of a case in a female infant;Barton;Neurology,1983
2. X;1 translocation in a female Menkes patient: characterization by Ñuorescence in situ hybridization;Beck;Clin Genet,1994
3. Two highly polymorphic CA repeats in the Menkes gene (AT P7A);Begy;Hum Genet,1995
4. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nature Genetics,1993
5. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nature Genetics,1993
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