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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Author:

Lisbeth Birk Møller,Zeynep Tümer,Connie Lund,Carsten Petersen,Trevor Cole,Ralf Hanusch,Jürg Seidel,Lars Riff Jensen,Nina Horn

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

April 2000

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