Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a genetic disease characterized by chronic respiratory-tract infections and in which most males are infertile due to...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Whitfield, Marjorie, Thomas, Lucie, Bequignon, Emilie, Schmitt, Alain, Stouvenel, Laurence, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Copin, Bruno, Chantot, Sandra, Dastot, Florence, Faucon, Catherine, Barbotin, Anne Laure, Loyens, Anne, Siffroi, Jean-Pierre, Papon, Jean-François, Escudier, Estelle, Amselem, Serge, Mitchell, Valérie, Touré, Aminata, Legendre, Marie
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6612517/
https://ncbi.nlm.nih.gov/pubmed/31178125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.015
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