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; Suzanne M. Leal; Wasim Ahmad; Friedrik P. Wikman; Kirsten B. Petersen; Dorthe G. Crueger; Jaap Oostrik; Hannie Kremer; Niels Tommerup; Morten Froedin; Karen P. Steel; Lisbeth Tranebjaerg; Anders D. Borglum

doi:10.1371/journal.pgen.1005386

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, Suzanne M. Leal, Wasim Ahmad, Friedrik P. Wikman, Kirsten B. Petersen, Dorthe G. Crueger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Froedin, Karen P. SteelLisbeth Tranebjaerg, Anders D. Borglum

Medical Genetics Program

8 Citations (Scopus)

Original language	English
Article number	e1005386
Journal	P L o S Genetics
Volume	11
Issue number	7
Pages (from-to)	1-25
Number of pages	25
ISSN	1553-7390
DOIs	https://doi.org/10.1371/journal.pgen.1005386
Publication status	Published - 1 Jul 2015

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Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F. P., Petersen, K. B., Crueger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Froedin, M., ... Borglum, A. D. (2015). A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. P L o S Genetics, 11(7), 1-25. Article e1005386. https://doi.org/10.1371/journal.pgen.1005386

Nyegaard, M, Rendtorff, ND, Nielsen, MS, Corydon, TJ, Demontis, D, Starnawska, A, Hedemand, A, Buniello, A, Niola, F, Overgaard, MT, Leal, SM, Ahmad, W, Wikman, FP, Petersen, KB, Crueger, DG, Oostrik, J, Kremer, H, Tommerup, N , Froedin, M, Steel, KP, Tranebjaerg, L & Borglum, AD 2015, 'A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment', P L o S Genetics, vol. 11, no. 7, e1005386, pp. 1-25. https://doi.org/10.1371/journal.pgen.1005386

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title = "A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment",

author = "Mette Nyegaard and Rendtorff, {Nanna D.} and Nielsen, {Morten S.} and Corydon, {Thomas J.} and Ditte Demontis and Anna Starnawska and Anne Hedemand and Annalisa Buniello and Francesco Niola and Overgaard, {Michael T.} and Leal, {Suzanne M.} and Wasim Ahmad and Wikman, {Friedrik P.} and Petersen, {Kirsten B.} and Crueger, {Dorthe G.} and Jaap Oostrik and Hannie Kremer and Niels Tommerup and Morten Froedin and Steel, {Karen P.} and Lisbeth Tranebjaerg and Borglum, {Anders D.}",

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AU - Nielsen, Morten S.

AU - Corydon, Thomas J.

AU - Demontis, Ditte

AU - Starnawska, Anna

AU - Hedemand, Anne

AU - Buniello, Annalisa

AU - Niola, Francesco

AU - Overgaard, Michael T.

AU - Leal, Suzanne M.

AU - Ahmad, Wasim

AU - Wikman, Friedrik P.

AU - Petersen, Kirsten B.

AU - Crueger, Dorthe G.

AU - Oostrik, Jaap

AU - Kremer, Hannie

AU - Tommerup, Niels

AU - Froedin, Morten

AU - Steel, Karen P.

AU - Tranebjaerg, Lisbeth

AU - Borglum, Anders D.

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M1 - e1005386

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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

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