Llwytho...
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Sci Rep |
|---|---|
| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Nature Publishing Group
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4522681/ https://ncbi.nlm.nih.gov/pubmed/26234941 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep12679 |
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