Literature DB >> 12408069

The clinical presentation of DFNA15/POU4F3.

Irit Gottfried1, Patrick L M Huygen, Karen B Avraham.   

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Year:  2002        PMID： 12408069     DOI： 10.1159/000066819

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN： 0065-3071


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  1 in total

1.  Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Authors:  Rob W J Collin; Ramesh Chellappa; Robert-Jan Pauw; Gert Vriend; Jaap Oostrik; Wendy van Drunen; Patrick L Huygen; Ronald Admiraal; Lies H Hoefsloot; Frans P M Cremers; Mengqing Xiang; Cor W R J Cremers; Hannie Kremer
Journal:  Hum Mutat       Date:  2008-04       Impact factor: 4.878
  1 in total

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