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Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family
AIM: To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2). METHODS: The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes incl...
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| Publié dans: | Int J Ophthalmol |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Journal of Ophthalmology Press
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4539639/ https://ncbi.nlm.nih.gov/pubmed/26309859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2015.04.05 |
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