Mutation

Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis

X. M. Nie, Cai, S. J., Xie, B., Chen, X. W., Jiang, M., Nie, X. M., Cai, S. J., Xie, B., Chen, X. W., Jiang, M., Nie, X. M., Cai, S. J., Xie, B., Chen, X. W., and Jiang, M., Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis, vol. 15, p. -, 2016.

The aim of this study was to identify changes in the base sequence of the upstream regulatory region of the transthyretin (TTR) gene. Whole-blood DNA was extracted from ten subjects belonging to a family with familial amyloidosis vitreoretinopathy; the upstream regulatory sequence was amplified by polymerase chain reaction, detected by gel electrophoresis, and sequenced.

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