Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès, Patrick; Coutton, Charles; Khouri, Elma El; Stouvenel, Laurence; Givelet, Maëlle; Thomas, Lucie; Rode, Baptiste; Schmitt, Alain; Louis, Bruno; Sakheli, Zeinab; Chaudhry, Marhaba; Fernandez-Gonzales, Angeles; Mitsialis, Alex; Dacheux, Denis; Wolf, Jean-Philippe; Papon, Jean-François; Gacon, Gérard; Escudier, Estelle; Arnoult, Christophe; Bonhivers, Mélanie; Savinov, Sergey N; Amselem, Serge; Ray, Pierre F; Dulioust, Emmanuel; Touré, Aminata.
Hum Mol Genet; 2018 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-30517620