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 Citationer (Scopus)

Originalsprog	Engelsk
Artikelnummer	e1005386
Tidsskrift	P L o S Genetics
Vol/bind	11
Udgave nummer	7
Sider (fra-til)	1-25
Antal sider	25
ISSN	1553-7390
DOI	https://doi.org/10.1371/journal.pgen.1005386
Status	Udgivet - 1 jul. 2015

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10.1371/journal.pgen.1005386Licens: CC BY

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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. Artikel 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, bind 11, nr. 7, e1005386, s. 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 - Nyegaard, Mette

AU - Rendtorff, Nanna D.

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.

PY - 2015/7/1

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U2 - 10.1371/journal.pgen.1005386

DO - 10.1371/journal.pgen.1005386

M3 - Journal article

C2 - 26197441

SN - 1553-7390

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JO - P L o S Genetics

JF - P L o S Genetics

IS - 7

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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