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Paper Details

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Kidney Int
37
2020
ATP6V0A4, ATP6V1B1, ATP6V1C2, Distal renal tubular acidosis, FOXI1, SLC4A1, SLC4A2, V-ATPase, V-type proton ATPase (1 family), WDR72, WDR72 mutations, Yeast, amelogenesis imperfecta, candidate gene, distal renal tubular acidosis, human, human candidate gene, hyperchloremic metabolic acidosis, impaired urinary acidification, patient, recessive distal renal tubular acidosis, renal tubular acidosis, renal tubular disorder, tubular acidosis
Author NameAffiliation
Maureen TarsioState University of New York (SUNY) Upstate Medical University
Francesco EmmaBambino Gesu Children's Hospital-IRCCS
Shrikant ManeYale University School of Medicine, USA Yale Center for Mendelian Genomics
Richard P LiftonYale University School of Medicine, USA Yale Center for Mendelian Genomics
Richard P LiftonYale University School of Medicine, USA Yale Center for Mendelian Genomics
Patricia M KaneState University of New York (SUNY) Upstate Medical University
Seth L AlperBeth Israel Deaconess Medical Center, Harvard Medical School
Friedhelm HildebrandtBoston Children's Hospital, Harvard Medical School
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