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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2010
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| Θέματα: | |
| Διαθέσιμο Online: | 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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