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

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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, vol. 84, no. 4, pp. 388-391. https://doi.org/10.1111/cge.12074

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Author

Rendtorff, Nd ; Schrijver, I ; Lodahl, M ; Rodriguez-Paris, J ; Johnsen, T ; Hansén, Ec ; Nickelsen, Laa ; Tümer, Z ; Fagerheim, T ; Wetke, Randi ; Tranebjaerg, L. / SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. In: The Application of Clinical Genetics. 2013 ; Vol. 84, No. 4. pp. 388-391.

Bibtex

@article{498582f76b574239ac8bb5b8a5aede44,
title = "SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations",
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",
year = "2013",
doi = "10.1111/cge.12074",
language = "English",
volume = "84",
pages = "388--391",
journal = "Application of Clinical Genetics",
issn = "1178-704X",
publisher = "Dove Medical Press Ltd",
number = "4",

}

RIS

TY - JOUR

T1 - SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

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

PY - 2013

Y1 - 2013

U2 - 10.1111/cge.12074

DO - 10.1111/cge.12074

M3 - Journal article

VL - 84

SP - 388

EP - 391

JO - Application of Clinical Genetics

JF - Application of Clinical Genetics

SN - 1178-704X

IS - 4

ER -

ID: 38400324