Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
The American Journal of Human Genetics2000Vol. 66(4), pp. 1211–1220
Citations Over TimeTop 10% of 2000 papers
Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Tilbæk Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn
Related Papers
- → Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions inATP7A(2003)65 cited
- → Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants(1999)60 cited
- → The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation(2012)5 cited
- The role of ATP7A in copper homeostasis(2007)
- The Milder Allelic Form, Occipital Horn Syndrome, in Contrast to the More Severe Form, Menkes Disease, is caused by Very Small Amounts of Normal ATP7A Transcript(2021)