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

Nanna Dahl 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

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

Medical Genetics Program

28 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Clinical Genetics
Vol/bind	84
Udgave nummer	4
Sider (fra-til)	388-391
Antal sider	4
ISSN	0009-9163
DOI	https://doi.org/10.1111/cge.12074
Status	Udgivet - okt. 2013

Adgang til dokumentet

10.1111/cge.12074

Citationsformater

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

author = "Rendtorff, {Nanna Dahl} 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",

month = oct,

doi = "10.1111/cge.12074",

language = "English",

volume = "84",

pages = "388--391",

journal = "Clinical Genetics",

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TY - JOUR

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

AU - Rendtorff, Nanna Dahl

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 - 2013/10

Y1 - 2013/10

U2 - 10.1111/cge.12074

DO - 10.1111/cge.12074

M3 - Journal article

C2 - 23336812

SN - 0009-9163

VL - 84

SP - 388

EP - 391

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -