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A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile7...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | PLoS One |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5444825/ https://ncbi.nlm.nih.gov/pubmed/28542515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0178384 |
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