Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-as...

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Vydáno v:Am J Hum Genet
Hlavní autoři: El Khouri, Elma, Thomas, Lucie, Jeanson, Ludovic, Bequignon, Emilie, Vallette, Benoit, Duquesnoy, Philippe, Montantin, Guy, Copin, Bruno, Dastot-Le Moal, Florence, Blanchon, Sylvain, Papon, Jean François, Lorès, Patrick, Yuan, Li, Collot, Nathalie, Tissier, Sylvie, Faucon, Catherine, Gacon, Gérard, Patrat, Catherine, Wolf, Jean Philippe, Dulioust, Emmanuel, Crestani, Bruno, Escudier, Estelle, Coste, André, Legendre, Marie, Touré, Aminata, Amselem, Serge
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974111/
https://ncbi.nlm.nih.gov/pubmed/27486783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.022
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