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Exome sequencing identified a recessive RDH12 mutation in a family with severe early-onset retinitis pigmentosa
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نویسنده
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gong b. ,wei b. ,huang l. ,hao j. ,li x. ,yang y. ,zhou y. ,hao f. ,cui z. ,zhang d. ,wang l. ,zhang h.
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منبع
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journal of ophthalmology - 2015 - دوره : 2015 - شماره : 0
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چکیده
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Retinitis pigmentosa (rp) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. this study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arrp) in a chinese family using next-generation sequencing technology. a chinese family with 7 members including two individuals affected with severe early-onset rp was studied. all patients underwent a complete ophthalmic examination. exome sequencing was performed on a single rp patient (the proband of this family) and direct sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. a homozygous mutation c.437t
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آدرس
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sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, china-japan union hospital of jilin university,neurosurgery,changchun, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, department of ophthalmology,first hospital of jilin university,changchun, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, department of ophthalmology,first hospital of jilin university,changchun, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China, department of ophthalmology,first hospital of jilin university,changchun, China, sichuan provincial key laboratory for disease gene study,hospital of university of electronic science and technology of china,sichuan provincial people's hospital,chengdu,sichuan,china,school of medicine,university of electronic science and technology of china,chengdu, China
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Authors
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