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A novel CRYBB2 stopgain mutation causing congenital autosomal dominant cataract in a Chinese family
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نویسنده
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zhou y. ,zhai y. ,huang l. ,gong b. ,li j. ,hao f. ,wu z. ,shi y. ,yang y.
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منبع
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journal of ophthalmology - 2016 - دوره : 2016 - شماره : 0
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چکیده
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Congenital cataract is the most common cause of the visual disability and blindness in childhood. this study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (adcc) in a chinese family using next-generation sequencing technology. this family included eight unaffected and five affected individuals. after complete ophthalmic examinations,the blood samples of the proband and two available family members were collected. then the whole exome sequencing was performed on the proband and sanger sequencing was applied to validate the causal mutation in the two family members and control samples. after the whole exome sequencing data were filtered through a series of existing variation databases,a heterozygous mutation c.499t
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آدرس
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key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,center of information in biomedicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,center of information in biomedicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,center of information in biomedicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu, China, department of ophthalmology,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,center of information in biomedicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu, China, department of ophthalmology,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,center of information in biomedicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu, China, key laboratory for human disease gene study,school of medicine,university of electronic science and technology of china,chengdu,china,chinese academy of sciences,sichuan translational medicine research hospital,chengdu,china,department of ophthalmology,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu, China
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Authors
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