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A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family
BACKGROUND: Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Ch...
Gorde:
| Argitaratua izan da: | Indian J Ophthalmol |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Medknow Publications & Media Pvt Ltd
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5200982/ https://ncbi.nlm.nih.gov/pubmed/27958203 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.195593 |
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