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Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation
The complete form of X-linked congenital stationary night blindness (CSNB) is a rare genetic disease caused by a mutation in the NYX gene. CSNB is associated with the mutations taking place in 17 genes, whilst its CSNB1A form is caused by the mutations in the NYX gene, which were characterized earli...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Russo |
| Pubblicazione: |
Real Time Ltd
2019-08-01
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| Serie: | Российский офтальмологический журнал |
| Soggetti: | |
| Accesso online: | https://roj.igb.ru/jour/article/view/304 |
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