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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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Bibliografiske detaljer
Main Authors: Zhang, Xin-Yu, Jiang, Wei-Ying, Chen, Lu-Ming, Chen, Su-Qin
Format: Artigo
Sprog:Inglês
Udgivet: International Journal of Ophthalmology Press 2013
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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