Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

Susan M Downes, Emily Packham, Treena Cranston, Penny Clouston, Anneke Seller, Andrea H Németh
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引用次数: 11

Abstract

146(5):761-766. 6. Vasconcelos-Santos DV, Rao PK, Davies JB, Sohn EH, Rao NA. Clinical features of tuberculous serpiginouslike choroiditis in contrast to classic serpiginous choroiditis. Arch Ophthalmol. 2010;128(7):853-858. 7. Wong R, Graham E, Scoppettuolo E, Moin M, Stanford MR. Case report: ampiginous chorioretinopathy associated with Eales disease in a patient with presumed tuberculosis. Retin Cases Brief Rep. 2011;5:249-250. 8. Friberg TR. Serpiginous choroiditis with branch vein occlusion and bilateral periphlebitis: case report. Arch Ophthalmol. 1988;106(5):585-586.
直接测序ABCA4致病性突变的检出率:临床和研究意义
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来源期刊
Archives of ophthalmology
Archives of ophthalmology 医学-眼科学
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3-8 weeks
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