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A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
PURPOSE: To report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese family. METHODS: We investigated four generations of a Chinese family six of whose members were affected by nuclear catar...
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Asıl Yazarlar: | , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Molecular Vision
2012
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3413427/ https://ncbi.nlm.nih.gov/pubmed/22876111 |
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