A novel nonsense ATP7A pathogenic variant in a family...

Molecular Genetics and Metabolism Reports 2017 / 12 Vol. 13

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Bonati, Maria Teresa, Verde, Federico, Hladnik, Uros, Cattelan, Paola, Campana, Luca, Castronovo, Chiara, Ticozzi, Nicola, Maderna, Luca, Colombrita, Claudia, Papa, Sergio, Banfi, Paolo, Silani, Vince
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Volume:
13
Language:
english
Journal:
Molecular Genetics and Metabolism Reports
DOI:
10.1016/j.ymgmr.2017.07.007
Date:
December, 2017
File:
PDF, 406 KB
english, 2017
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