Nature Genetics
- 39, 427 - 428 (2007)
doi:10.1038/ng0407-427
Analysis of published PKD1 gene sequence variantsAlexander M Gout1, 2, 3, the ADPKD Gene Variant Consortium4 & David Ravine3, 51
The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia. 2
Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia. 3
School of Medicine and Pharmacology, The University of Western Australia, Nedlands 6009, Australia. 4
Corresponding authors of publications describing variants within the PKD1 gene (a full list of authors is given at the end of the paper). 5
Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Nedlands 6009, Australia. david.ravine@uwa.edu.au
6
Mayo Clinic College of Medicine, Rochester, New York, USA. 7
Leiden University Medical Centre, Leiden, The Netherlands. 8
Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA. 9
Department of Health and Environmental Sciences, Kyoto University, Japan. 10
Kyorin University School of Health Sciences, Japan. 11
Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. 12
Department of Biological Sciences, University of Cyprus, Lefkosia, Cyprus. 13
Department of Medical Genetics, Cambridge Institute of Medical Research, Addenbrooke's Hospital, Cambridge, UK. 14
Nephrology Department, Fundació Puigvert, Barcelona, Spain. 15
Department of Mother & Child - Genetics, University of Verona School of Medicine, Verona, Italy. 16
Medical Genetics Unit, St. George's Hospital Medical School, London, UK. 17
Génétique médicale et développement, INSERM, Marseille, France. 18
Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut, USA. 19
Free University Medical Center Department of Internal Medicine, Amsterdam, The Netherlands. 20
Laboratoire de génétique moléculaire, CHU Brest, France. 21
Division of Nephrology, Department of Medicine, University of Toronto, Canada. 22
Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia. 23
Institute of Human Genetics, University of Muenster, Germany. 24
Centre for Human Genetics, Edith Cowan University, Joondalup, Australia. 25
Department of Internal Medicine, Eulji Medical College, Seoul National University, Seoul, Korea. 26
Deptartment of Clinical Genetics, Rotterdam, The Netherlands. 27
Department of Nephrology & Department of Biology and Medical Genetics, Charles University, Prague, Czech Republic. 28
Departments of Endocrinology and Molecular Genetics, Hospital Ramo, Madrid, Spain. 29
Dipartimento di Biochimica e Biologia Molecolare, Universita degli Studi, Ferrara, Italy.
REFERENCES
- Cotton, R.G. & Scriver, C.R. Hum. Mutat. 12, 1–3 (1998). | Article | PubMed | ISI | ChemPort |
- Horaitis, O. & Cotton, R.G. Hum. Mutat. 23, 447–452 (2004). | Article | PubMed | ISI | ChemPort |
- Maddalena, A., Bale, S., Das, S., Grody, W. & Richards, S. & the ACMG Laboratory Quality Assurance Committee. Genet. Med. 7, 571–583 (2005). | PubMed |
- Patton, S.J., Wallace, A.J. & Elles, R. Clin. Chem. 52, 728–736 (2006). | Article | PubMed | ChemPort |
- Dequeker, E. & Cassiman, J.J. Nat. Genet. 25, 259–260 (2000). | Article | PubMed | ISI | ChemPort |
- Gout, A.M., Martin, N.C., Brown, A.F. & Ravine, D. Hum. Mutat. (in the press).
- den Dunnen, J.T. & Antonarakis, S.E. Hum. Mutat. 15, 7–12 (2000). | Article | PubMed | ISI | ChemPort |
- Rutherford, K. et al. Bioinformatics 16, 944–945 (2000). | Article | PubMed | ISI | ChemPort |
- Pilotti, M., Chodorow, M. & Thornton, K.C. J. Gen. Psychol. 131, 242–266 (2004). | PubMed |
- Zeeberg, B.R. et al. BMC Bioinformatics 5, 80–85 (2004). | Article | PubMed |
- den Dunnen, J.T. & Paalman, M.H. Hum. Mutat. 22, 181–182 (2003). | Article | PubMed |
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|