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Open Access
Peer-reviewed
Research Article
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
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Mette Nyegaard ,
Contributed equally to this work with: Mette Nyegaard, Nanna D. Rendtorff
* E-mail: nyegaard@biomed.au.dk
Affiliations Department of Biomedicine, Aarhus University, Aarhus, Denmark, Centre for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark
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Nanna D. Rendtorff ,
Contributed equally to this work with: Mette Nyegaard, Nanna D. Rendtorff
Affiliations Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen, Denmark, Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark, Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
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Morten S. Nielsen,
Affiliation Department of Biomedicine, Aarhus University, Aarhus, Denmark
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Thomas J. Corydon,
Affiliation Department of Biomedicine, Aarhus University, Aarhus, Denmark
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Ditte Demontis,
Affiliations Department of Biomedicine, Aarhus University, Aarhus, Denmark, Centre for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark
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Anna Starnawska,
Affiliations Department of Biomedicine, Aarhus University, Aarhus, Denmark, Centre for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark
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Anne Hedemand,
Affiliations Department of Biomedicine, Aarhus University, Aarhus, Denmark, Centre for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark
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Annalisa Buniello,
Affiliation Wolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom
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Francesco Niola,
Affiliation Biotech Research & Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark
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Michael T. Overgaard,
Affiliation Department of Chemistry and Bioscience, Aalborg University, Aalborg Ø, Denmark
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Suzanne M. Leal,
Affiliation Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Wasim Ahmad,
Affiliation Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
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Friedrik P. Wikman,
Affiliation Department of Molecular Medicine, Aarhus University Hospital, Skejby, Aarhus, Denmark
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Kirsten B. Petersen,
Affiliation Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark
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Dorthe G. Crüger,
Affiliation Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark
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Jaap Oostrik,
Affiliation Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands
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Hannie Kremer,
Affiliations Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands
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Niels Tommerup,
Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen, Denmark
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Morten Frödin,
Affiliation Biotech Research & Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark
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Karen P. Steel,
Affiliation Wolfson Centre for Age-Related Diseases, King's College London, London, United Kingdom
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Lisbeth Tranebjærg,
Affiliations Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen, Denmark, Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark, Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
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Anders D. Børglum
Affiliations Department of Biomedicine, Aarhus University, Aarhus, Denmark, Centre for Integrative Sequencing (iSEQ), Aarhus University, Aarhus, Denmark
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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
- Mette Nyegaard,
- Nanna D. Rendtorff,
- Morten S. Nielsen,
- Thomas J. Corydon,
- Ditte Demontis,
- Anna Starnawska,
- Anne Hedemand,
- Annalisa Buniello,
- Francesco Niola,
- Michael T. Overgaard
- Published: July 21, 2015
- https://doi.org/10.1371/journal.pgen.1005386