A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
Titel:
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene
Auteur:
Hofstaetter, Jochen G. Atkins, Gerald J. Kato, Hajime Kogawa, Masakazu Blouin, Stéphane Misof, Barbara M. Roschger, Paul Evdokiou, Andreas Yang, Dongqing Solomon, Lucian B. Findlay, David M. Ito, Nobuaki