Cost of precision medicine at a referral center for cystic fibrosis.
作者信息
Marson Fernando Augusto Lima
机构信息
. Departamento de Genética Médica e Medicina Genômica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas (SP) Brasil.
. Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas (SP) Brasil.
出版信息
J Bras Pneumol. 2020 Mar 2;46(2):e20190308. doi: 10.36416/1806-3756/e20190308.
Abstract
摘要
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Sci Rep. 2019 Apr 17;9(1):6234. doi: 10.1038/s41598-019-42404-6.
2
Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients.VX-809 和 VX-770 对 F508del-CFTR 功能的挽救程度与 F508del/F508del 囊性纤维化患者 SLC26A9 基因中的 SNP rs7512462 相关。
Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1323-1331. doi: 10.1016/j.bbadis.2019.01.029. Epub 2019 Feb 1.
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VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.VX-659-泰泽卡托维伐替卡与依伐卡托维在携带一个或两个 Phe508del 等位基因的囊性纤维化患者中的疗效。
N Engl J Med. 2018 Oct 25;379(17):1599-1611. doi: 10.1056/NEJMoa1807119. Epub 2018 Oct 18.
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VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.VX-445-泰泽卡托维瓦卡托联合治疗伴有一个或两个 Phe508del 等位基因的囊性纤维化患者。
N Engl J Med. 2018 Oct 25;379(17):1612-1620. doi: 10.1056/NEJMoa1807120. Epub 2018 Oct 18.
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Disease-modifying genetic factors in cystic fibrosis.囊性纤维化的疾病修饰遗传因素。
Curr Opin Pulm Med. 2018 May;24(3):296-308. doi: 10.1097/MCP.0000000000000479.
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