Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Khan, K, Logan, CV, McKibbin, M et al. (18 more authors) (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics, 21 (4). pp. 776-783. ISSN 0964-6906

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Copyright, Publisher and Additional Information: (c) The Author 2011. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Basic Helix-Loop-Helix Transcription Factors/*genetics Consanguinity DNA Mutational Analysis/*methods Eye/*embryology/pathology Eye Abnormalities/genetics/pathology Eye Diseases/*genetics/pathology Eye Proteins/metabolism Humans Male Mutation/*genetics Nerve Tissue Proteins/metabolism Retina/pathology beta Catenin/metabolism
Dates:
  • Published: 15 February 2012
  • Accepted: 29 October 2011
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Experimental Therapeutics (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 08 Sep 2017 14:45
Last Modified: 01 Mar 2019 12:50
Status: Published
Publisher: Oxford University Press
Identification Number: https://doi.org/10.1093/hmg/ddr509
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