Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract
Background/purpose: A three-generation Chinese family with autosomal dominant congenital nuclear cataract was recruited. This study aimed to identify the disease-causing gene for nuclear cataract with functional dissections of the identified mutant. Methods: Detailed clinical data and family history...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-01-01
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| Series: | Journal of the Formosan Medical Association |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664618301700 |