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Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
PURPOSE: To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract. METHODS: Genomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cer...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Molecular Vision
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3154127/ https://ncbi.nlm.nih.gov/pubmed/21850180 |
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