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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, El Khouri, Elma, Stouvenel, Laurence, Givelet, Maëlle, Thomas, Lucie, Rode, Baptiste, Schmitt, Alain, Louis, Bruno, Sakheli, Zeinab, Chaudhry, Marhaba, Fernandez-GonzLanguage:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy034
Date:
January, 2018
File:
PDF, 2.55 MB
english, 2018