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Diagnostics
Original article
In vivo bioassay to test the pathogenicity of missense human AIP variants

Authors

  • Elena Daniela Aflorei Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK PubMed articlesGoogle scholar articles
  • Benjamin Klapholz Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Chenghao Chen Department of Cell and Developmental Biology, Division of Biosciences, Faculty of Life Sciences, University College London, London, UK PubMed articlesGoogle scholar articles
  • Serban Radian Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania PubMed articlesGoogle scholar articles
  • Anca Neluta Dragu Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK Department of Cell and Developmental Biology, Division of Biosciences, Faculty of Life Sciences, University College London, London, UK PubMed articlesGoogle scholar articles
  • Nina Moderau Protein Dynamics and Cell Signalling Laboratory, Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK PubMed articlesGoogle scholar articles
  • Chrisostomos Prodromou Genome Damage and Stability Centre, University of Sussex, Brighton, UK PubMed articlesGoogle scholar articles
  • Paulo S Ribeiro Protein Dynamics and Cell Signalling Laboratory, Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK PubMed articlesGoogle scholar articles
  • Ralf Stanewsky Department of Cell and Developmental Biology, Division of Biosciences, Faculty of Life Sciences, University College London, London, UK Institute of Neuro- and Behavioural Biology, Westfälische Wilhelms University, Münster, Germany PubMed articlesGoogle scholar articles
  • Márta Korbonits Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Márta Korbonits, Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK; m.korbonits{at}qmul.ac.uk
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Citation

Aflorei ED, Klapholz B, Chen C, et al
In vivo bioassay to test the pathogenicity of missense human AIP variants
Journal of Medical Genetics 2018;55:522-529.

Publication history

  • Received December 1, 2017
  • Revised February 23, 2018
  • Accepted March 1, 2018
  • First published April 9, 2018.
Online issue publication 
June 15, 2020

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an open access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/