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1Academic Journal
المؤلفون: Park, Jeffrey KiHyun, Shrivastava, Anura, Zhang, Chengkang, Pollok, Brian A, Finkbeiner, Walter E, Gibb, Elizabeth R, Ly, Ngoc P, Illek, Beate
مصطلحات موضوعية: Rare Diseases, Cystic Fibrosis, Orphan Drug, Lung, Good Health and Well Being, Cystic fibrosis, mutation-specific CFTR function analysis, CFTRdele2, 3(21kb) (c, 54-5940_270+10250del21 kb, p, Ser18ArgfsX16), c, 850dupA (977insA, Met284Asnfs), R334W (c, 1000C>T, Arg334Trp), 406-1G->A (c, 274-1G>A), R117H-7T (c, 350G>A, Arg117His), F508del (c, 1521_1523delCTT, Phe508del), 3(21kb) (c.54-5940_270+10250del21 kb, 406-1G->A, F508del (c.1521_1523delCTT, R117H-7T (c.350G>A, R334W (c.1000C>T, c.850dupA (977insA, p.Arg117His), p.Arg334Trp), p.Met284Asnfs), p.Phe508del), p.Ser18ArgfsX16), Paediatrics and Reproductive Medicine, Other Medical and Health Sciences
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المؤلفون: Brian A. Pollok, Anura Shrivastava, Ngoc P. Ly, Jeffrey KiHyun Park, Walter E. Finkbeiner, Elizabeth R. Gibb, Chengkang Zhang, Beate Illek
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
مصطلحات موضوعية: Cystic Fibrosis, p.Phe508del), Mutant, F508del (c, mutation-specific CFTR function analysis, 030204 cardiovascular system & hematology, Cystic fibrosis, Ivacaftor, chemistry.chemical_compound, 0302 clinical medicine, R117H-7T (c, R334W (c, Genotype, CFTRdele2, Lung, Forskolin, Ser18ArgfsX16), 350G>A, Lumacaftor, lcsh:RJ1-570, respiratory system, medicine.anatomical_structure, p.Met284Asnfs), 1000C>T, p.Arg334Trp), 1521_1523delCTT, 274-1G>A), p.Ser18ArgfsX16), 406-1G->A, Phe508del), medicine.drug, c.850dupA (977insA, 850dupA (977insA, Met284Asnfs), 3(21kb) (c.54-5940_270+10250del21 kb, 406-1G->A (c, 54-5940_270+10250del21 kb, Paediatrics and Reproductive Medicine, 03 medical and health sciences, Rare Diseases, 030225 pediatrics, medicine, F508del (c.1521_1523delCTT, R117H-7T (c.350G>A, Other Medical and Health Sciences, Arg334Trp), business.industry, Wild type, lcsh:Pediatrics, Arg117His), medicine.disease, p.Arg117His), Molecular biology, Epithelium, 3(21kb) (c, Orphan Drug, Good Health and Well Being, chemistry, Pediatrics, Perinatology and Child Health, R334W (c.1000C>T, business
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