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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract
BACKGROUND: Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis. However, the pathogenic loci in some affected families are still unknown, and...
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| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3851584/ https://ncbi.nlm.nih.gov/pubmed/24103489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-107 |
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