טוען...
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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| Main Authors: | , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2008
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| נושאים: | |
| גישה מקוונת: | 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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