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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2016
Fag:
Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker