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Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.

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作者单位: Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; Department of Nephrology, University Hospital, European University of Brittany, Brest, Brittany 29200, France; Department of Molecular Genetics, National Institute of Health and Medical Sciences, INSERM U1078, Brest 29200, France. [1] Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA. [2] Section of Nephrology, Yale School of Medicine, New Haven, CT 06520, USA. [3] Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA. [4] Department of Molecular Genetics, National Institute of Health and Medical Sciences, INSERM U1078, Brest 29200, France. [5] Division of Renal Diseases and Hypertension, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80202, USA. [6] Division of Nephrology, University Health Network, Toronto, ON M5G 2C4, Canada. [7] Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA. [8] Service of Nephrology, Necker Hospital, Paris 75231, France. [9] Division of Nephrology, University of Liège, Liège 4000, Belgium. [10] Service of Nephrology and Hemodialysis, Saintes 17108, France. [11] Service of Nephrology, Yves Le Foll Hospital, Saint Brieuc 22000, France. [12] Kidney Institute, University of Kansas Medical Center, Kansas City, KS 66160, USA. [13] Department of Medical Imaging, University Health Network, Toronto, ON M5G 2C4, Canada. [14] Department of Nephrology, University Hospital, European University of Brittany, Brest, Brittany 29200, France. [15] Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: harris.peter@mayo.edu. [16]
DOI 10.1016/j.ajhg.2018.03.013
PMID 29706351
发布时间 2024-06-17
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American journal of human genetics

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