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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 |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2016
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| Témata: | |
| 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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