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

Clin Genet. 2013 Oct;84(4):388-91. doi: 10.1111/cge.12074. Epub 2013 Jan 22.

Authors

N D Rendtorff¹, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, E C Hansén, L A A Nickelsen, Z Tümer, T Fagerheim, R Wetke, L Tranebjaerg

Affiliation

¹ Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

PMID: 23336812
DOI: 10.1111/cge.12074

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Denmark
Exons
Genotype
Goiter, Nodular / diagnosis
Goiter, Nodular / genetics*
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / genetics*
Humans
Introns
Membrane Transport Proteins / genetics*
Mutation Rate*
Sulfate Transporters

Substances

Membrane Transport Proteins
SLC26A4 protein, human
Sulfate Transporters

Supplementary concepts

Pendred syndrome