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

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

Author information

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
[Indexed for MEDLINE]

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