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Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Duran, Daniel; Jin, Sheng Chih; DeSpenza, Tyrone; Nelson-Williams, Carol; Cogal, Andrea G; Abrash, Elizabeth W; Harris, Peter C; Lieske, John C; Shimshak, Serena Je; Mane, Shrikant; Bilguvar, Kaya; DiLuna, Michael L; Günel, Murat; Lifton, Richard P; Kahle, Kristopher T.
Affiliation
  • Duran D; Department of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
  • Jin SC; Department of Genetics, Yale School of Medicine , New Haven, CT, USA.
  • DeSpenza T; Department of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
  • Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Cogal AG; Division of Nephrology and Hypertension, Mayo Clinic College of Medicine , Rochester, MN, USA.
  • Abrash EW; Division of Nephrology and Hypertension, Mayo Clinic College of Medicine , Rochester, MN, USA.
  • Harris PC; Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, MN, USA.
  • Lieske JC; Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; O'Brien Urology Research Center, Mayo Clinic College of Medicine, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.
  • Shimshak SJ; Department of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
  • Mane S; Yale Center for Genome Analysis, Yale School of Medicine, Yale University , New Haven, CT, USA.
  • Bilguvar K; Yale Center for Genome Analysis, Yale School of Medicine, Yale University , New Haven, CT, USA.
  • DiLuna ML; Department of Neurosurgery, Yale School of Medicine , New Haven, CT, USA.
  • Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Lifton RP; Howard Hughes Medical Institute , Chevy Chase, MD, USA.
  • Kahle KT; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.
Hum Genome Var ; 3: 16042, 2016.
Article in En | MEDLINE | ID: mdl-28018608
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Hum Genome Var Year: 2016 Document type: Article Affiliation country: United States Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Hum Genome Var Year: 2016 Document type: Article Affiliation country: United States Country of publication: United kingdom