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Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo.
Affiliation
  • Vazquez Fonseca L; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Doimo M; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Calderan C; Department of Medical Biochemistry and Biophysics, Umeå University, Umeå, Sweden.
  • Desbats MA; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Acosta MJ; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Cerqua C; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Cassina M; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Ashraf S; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Sartori G; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Navas P; Department of Biomedical Sciences, University of Padova, Padova, Italy.
  • Trevisson E; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, CIBERER Instituto de Salud Carlos III, Seville, Spain.
  • Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.
Hum Mutat ; 39(3): 406-414, 2018 03.
Article in En | MEDLINE | ID: mdl-29194833
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Kinases / Steroids / Drug Resistance / Mutation / Nephrotic Syndrome Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italy Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Kinases / Steroids / Drug Resistance / Mutation / Nephrotic Syndrome Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italy Country of publication: United States