A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

OBJECTIVE/HYPOTHESIS: To determine the cause of autosomal dominant hearing loss segregating in an American family. STUDY DESIGN: Family study. METHODS: Otologic and audiometric examination was performed on affected family members. Genome wide parametric multipoint linkage mapping using a dominant mo...

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Hauptverfasser: Hildebrand, Michael S., Gandolfo, Luke, Shearer, A. Eliot, Webster, Jennifer A., Jensen, Maren, Kimberling, William J., Stephan, Dietrich, Huygen, Patrick L.M., Smith, Richard J.H., Bahlo, Melanie
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3329724/
https://ncbi.nlm.nih.gov/pubmed/21046548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/lary.21159
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