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Links from Protein

Items: 4

1.
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis
Elizabeth Blue, Tin L. Louie, Jessica X. Chong, Scott J. Hebbring, Kathleen C. Barnes, Nicholas M. Rafaels, Michael R. Knowles, Ronald L. Gibson, Michael J. Bamshad, , U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO)
Ann Am Thorac Soc. 2018 Apr; 15(4): 440–448. doi: 10.1513/AnnalsATS.201706-451OC
PMCID:
PMC5879139
AbstractArticlePDF–771K
2.
A locus for primary ciliary dyskinesia maps to chromosome 19q
M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H Hamam, E Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H Mitchison, R Gardiner, E Chung
J Med Genet. 2000 Apr; 37(4): 241–244. doi: 10.1136/jmg.37.4.241
Correction in:
J Med Genet. 2001 Dec; 38(12): 894.
PMCID:
PMC1734555
SummaryPDF–166K
3.
Genetic factors contributing to human primary ciliary dyskinesia and male infertility
Zhi-Yong Ji, Yan-Wei Sha, Lu Ding, Ping Li
Asian J Androl. 2017 Sep-Oct; 19(5): 515–520. Published online 2016 Jun 7. doi: 10.4103/1008-682X.181227
PMCID:
PMC5566842
AbstractArticlePDF–232K
4.
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges, Judy Freshour, Athina Dritsoula, Rob A. Hirst, Christopher O’Callaghan, Hannah Blau, Maha Al Dabbagh, Heike Olbrich, Philip L. Beales, Toshiki Yagi, Huda Mussaffi, Eddie M.K. Chung, Heymut Omran, David R. Mitchell
Nat Genet. Author manuscript; available in PMC 2012 Oct 1.
Published in final edited form as: Nat Genet. 2012 Apr; 44(4): 381–S2. Published online 2012 Mar 4. doi: 10.1038/ng.1106
PMCID:
PMC3315610
AbstractArticlePDF–1.9M

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