Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding

In a Dutch pedigree suffering from autosomal dominant nonsyndromic hearing impairment (ADNSHI), linkage was found to the locus for DFNA15, with a two-point logarithm of the odds (LOD) score of 5.1. Sequence analysis of the POU4F3 gene that is involved in DFNA15 revealed the presence of a missense mu...

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Bibliografiska uppgifter
Huvudupphovsmän: Collin, Rob W.J., Chellappa, Ramesh, Pauw, Robert-Jan, Vriend, Gert, Oostrik, Jaap, van Drunen, Wendy, Huygen, Patrick L., Admiraal, Ronald, Hoefsloot, Lies H., Cremers, Frans P.M., Xiang, Mengqing, Cremers, Cor W.R.J., Kremer, Hannie
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2008
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2453783/
https://ncbi.nlm.nih.gov/pubmed/18228599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20693
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