SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Nd Rendtorff; I Schrijver; M Lodahl; J Rodriguez-Paris; T Johnsen; Ec Hansén; Laa Nickelsen; Z Tümer; T Fagerheim; Randi Wetke; L Tranebjaerg

doi:10.1111/cge.12074

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

Nd Rendtorff
, I Schrijver
, M Lodahl
, J Rodriguez-Paris
, T Johnsen
, Ec Hansén
, Laa Nickelsen
, Z Tümer
, T Fagerheim
, Randi Wetke
, L Tranebjaerg

Afdeling for Øre-, Næse-, Halskirurgi og Audiologi

35 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	The Application of Clinical Genetics
Vol/bind	84
Udgave nummer	4
Sider (fra-til)	388-391
ISSN	1178-704X
DOI	https://doi.org/10.1111/cge.12074
Status	Udgivet - 2013

Adgang til dokumentet

10.1111/cge.12074

Citationsformater

Rendtorff, N., Schrijver, I., Lodahl, M., Rodriguez-Paris, J., Johnsen, T., Hansén, E., Nickelsen, L., Tümer, Z., Fagerheim, T., Wetke, R., & Tranebjaerg, L. (2013). SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. The Application of Clinical Genetics, 84(4), 388-391. https://doi.org/10.1111/cge.12074

Rendtorff, N, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, E, Nickelsen, L, Tümer, Z, Fagerheim, T, Wetke, R & Tranebjaerg, L 2013, 'SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations', The Application of Clinical Genetics, bind 84, nr. 4, s. 388-391. https://doi.org/10.1111/cge.12074

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author = "Nd Rendtorff and I Schrijver and M Lodahl and J Rodriguez-Paris and T Johnsen and Ec Hans{\'e}n and Laa Nickelsen and Z T{\"u}mer and T Fagerheim and Randi Wetke and L Tranebjaerg",

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AU - Rendtorff, Nd

AU - Schrijver, I

AU - Lodahl, M

AU - Rodriguez-Paris, J

AU - Johnsen, T

AU - Hansén, Ec

AU - Nickelsen, Laa

AU - Tümer, Z

AU - Fagerheim, T

AU - Wetke, Randi

AU - Tranebjaerg, L

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JF - The Application of Clinical Genetics

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