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Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

  1. Mara Doimo1,
  2. Maria Andrea Desbats1,
  3. Maria Cristina Baldoin1,
  4. Elisabetta Lenzini2,
  5. Giuseppe Basso3,
  6. Elaine Murphy4,
  7. Claudio Graziano5,
  8. Marco Seri5,
  9. Alberto Burlina6,
  10. Geppo Sartori7,
  11. Eva Trevisson1,
  12. Leonardo Salviati1,*

Article first published online: 17 OCT 2012

DOI: 10.1002/humu.22233

Issue

Human Mutation

Human Mutation

Volume 34, Issue 1, pages 229–236, January 2013

Additional Information

How to Cite

Doimo, M., Desbats, M. A., Baldoin, M. C., Lenzini, E., Basso, G., Murphy, E., Graziano, C., Seri, M., Burlina, A., Sartori, G., Trevisson, E. and Salviati, L. (2013), Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Hum. Mutat., 34: 229–236. doi: 10.1002/humu.22233

Author Information

  1. 1

    Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy

  2. 2

    Department of Woman and Child Health, Azienda Ospedaliera di Padova, Italy

  3. 3

    Pediatric Oncology Laboratory, Department of Woman and Child Health, University of Padova, Italy

  4. 4

    Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK

  5. 5

    Department of Gynecology, Obstetrics, and Pediatrics, University of Bologna, Italy

  6. 6

    Metabolic Disorders Unit, Department of Woman and Child Health, Azienda Ospedaliera di Padova, Italy

  7. 7

    Department of Biomedical Sciences, University of Padova, Italy

* Correspondence to: Leonardo Salviati, Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy. E-mail: leonardo.salviati@unipd.it

  1. Communicated by David Rosenblatt

  2. Contract grant sponsors: Fondazione CARIPARO and Telethon Italy (GGP09207); University of Padova (2010-CPDA102953).

Publication History

  1. Issue published online: 20 DEC 2012
  2. Article first published online: 17 OCT 2012
  3. Accepted manuscript online: 11 OCT 2012 01:15PM EST
  4. Manuscript Accepted: 4 SEP 2012
  5. Manuscript Received: 11 APR 2012

Funded by

  • Fondazione CARIPARO and Telethon Italy. Grant Number: GGP09207
  • University of Padova. Grant Number: 2010-CPDA102953

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