Novel long-range regulatory mechanisms controlling PKD2 gene expression
Author:
Funder
GIRCI grand-ouest
Fondation Maladies Rares
Canadian Institutes of Health Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Biotechnology
Link
http://link.springer.com/content/pdf/10.1186/s12864-018-4892-6.pdf
Reference79 articles.
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2. The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994;77(6):881–94.
3. Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996;272(5266):1339–42.
4. Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, et al. Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet. 2016;98(6):1193–207.
5. Audrezet MP, Cornec-Le Gall E, Chen JM, Redon S, Quere I, Creff J, Benech C, Maestri S, Le Meur Y, Ferec C. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012;33(8):1239–50.
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