SHORT REPORT

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss

  1. N Mohebbi1,2,*,
  2. R Vargas-Poussou3,
  3. SCA Hegemann4,
  4. B Schuknecht5,
  5. AD Kistler2,
  6. RP Wüthrich2,
  7. CA Wagner1

Article first published online: 10 MAY 2012

DOI: 10.1111/j.1399-0004.2012.01891.x

Issue

Clinical Genetics

Clinical Genetics

Volume 83, Issue 3, pages 274–278, March 2013

Additional Information

How to Cite

Mohebbi, N., Vargas-Poussou, R., Hegemann, S., Schuknecht, B., Kistler, A., Wüthrich, R. and Wagner, C. (2013), Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics, 83: 274–278. doi: 10.1111/j.1399-0004.2012.01891.x

Author Information

  1. 1

    Institute of Physiology and Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland

  2. 2

    Division of Nephrology, University Hospital Zurich, Zurich, Switzerland

  3. 3

    Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France

  4. 4

    Department of Otorhinolaryngology, Head & Neck Surgery, University Hospital Zurich, Zurich, Switzerland

  5. 5

    Department of Neuroradiology, Institute for Medical Radiology, Zurich, Switzerland

*Nilufar Mohebbi, Institute of Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland. Tel.: +41 44 63 55036; fax: +41 44 63 56814; e-mail: nmohebbi@access.uzh.ch

Publication History

  1. Issue published online: 18 FEB 2013
  2. Article first published online: 10 MAY 2012
  3. Accepted manuscript online: 17 APR 2012 10:50AM EST
  4. Received 7 February 2012, revised and accepted for publication 11 April 2012

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View Full Article with Supporting Information (HTML) Get PDF (803K)