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Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous. The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-synd...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomics |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4707654/ https://ncbi.nlm.nih.gov/pubmed/25633957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00438-015-0995-9 |
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