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A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family
AIM: To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND). METHODS: Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by dir...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
International Journal of Ophthalmology Press
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3874509/ https://ncbi.nlm.nih.gov/pubmed/24392318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2013.06.01 |
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