Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing
Abstract Background Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. Methods Detailed family history and clinical data were collected,...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2019-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |