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- [42] Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedemaORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)Jiang, Lingxi论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent Chinese Acad Med Sci 20, Chengdu 610072, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaDai, Chao论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaDuan, Suyang论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaWang, Tingting论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaXie, Chunbao论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaZhang, Luhan论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaYe, Zimeng论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sch Med, Camperdown, NSW 2006, Australia Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaMa, Xiumei论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R ChinaShi, Yi论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Ctr Med Genet, Dept Lab Med, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Dept Ophthalmol, Chengdu 610072, Peoples R China Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Res Unit Blindness Prevent Chinese Acad Med Sci 20, Chengdu 610072, Peoples R China Sichuan Prov Peoples Hosp, Hlth Management Ctr, Chengdu 610072, Peoples R China Univ Elect Sci & Technol China, Sichuan Acad Med Sci & Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China
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- [44] Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 geneWORLD ALLERGY ORGANIZATION JOURNAL, 2024, 17 (03):Markocsy, Adam论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaHrubiskova, Katarina论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Ctr Hereditary Angioedema, Clin Internal Med 5,Fac Med, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaHrubisko, Martin论文数: 0 引用数: 0 h-index: 0机构: St Elisabeth Canc Inst Bratislava, Dept Clin Immunol & Allergol, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaFreiberger, Tomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaGrombirikova, Hana论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaDolesova, Lenka论文数: 0 引用数: 0 h-index: 0机构: St Elisabeth Canc Inst Bratislava, Dept Med Genet, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaVavrova, Ludmila Slivka论文数: 0 引用数: 0 h-index: 0机构: St Elisabeth Canc Inst Bratislava, Dept Med Genet, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaBehulova, Regina Lohajova论文数: 0 引用数: 0 h-index: 0机构: St Elisabeth Canc Inst Bratislava, Dept Med Genet, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaOndrusova, Martina论文数: 0 引用数: 0 h-index: 0机构: Pharm In Ltd, Bratislava, Slovakia Slovak Med Univ, Fac Publ Hlth, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaBanovcin, Peter论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaVorcakova, Karolina论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Martin, Jessenius Fac Med, Clin Dermatovenerol, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, SlovakiaJesenak, Milos论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Jessenius Fac Med, Dept Clin Immunol & Allergol, Bratislava, Slovakia Comenius Univ, Univ Hosp Martin, Natl Ctr Hereditary Angioedema, Clin Children & Adolescents,Jessenius Fac Med, Bratislava, Slovakia
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- [46] A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary AngioedemaJOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (05) : 521 - 523Colobran, Roger论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, Spain Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Clin & Mol Genet Div, Barcelona, Spain Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, SpainPujol-Borrell, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, Spain Hosp Univ Vall dHebron, Direccio Labs, Div Immunol, Barcelona 08035, Spain Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, SpainHernandez-Gonzalez, Manuel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, Spain Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, SpainGuilarte, Mar论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Dept Internal Med, Allergy Unit, Barcelona, Spain Hosp Univ Vall dHebron HUVH, Vall dHebron Res Inst VHIR, Div Immunol, Barcelona, Spain
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- [50] Mutations in SERPING1, the gene coding for C1 Inhibitor, in patients with hereditary angioedema in BrazilALLERGY, 2016, 71 : 554 - 554Maia, L. S. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilFerriani, M. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilDias, M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilValle, S. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Rio De Janeiro, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilFranca, A. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Rio De Janeiro, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilLevi, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio de Janeiro, Rio De Janeiro, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilRoxo, P., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Pediat, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilSilva, W., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilMoreno, A. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, BrazilArruda, L. K. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med, Ribeirao Preto, Brazil Univ Sao Paulo, Med, Ribeirao Preto, Brazil