Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions inATP7A
Author:
Funder
The Danish Medical Council
The Novo Nordisk Foundation
the Foundation of 1870
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. Clinical expression of Menkes disease in a girl with X;13 translocation;Abusaad;Am J Med Genet,1999
2. X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization;Beck;Clin Genet,1994
3. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nat Genet,1993
4. Intragenic deletions at Atp7a in mouse models for Menkes disease;Cunliffe;Genomics,2001
5. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease;Dagenais;Am J Hum Genet,2001
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