Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.-论文-万方医学网

作者： Giovanna,Cardiero ^[1] ; Gennaro,Musollino ^[1] ; Maria Grazia,Friscia ^[2] ; Rosario,Testa ^[3] ; Lucrezia,Virruso ^[4] ; Caterina,Di Girgenti ^[4] ; Mercedes,Caldora ^[5] ; Rosario,Colella Bisogno ^[6] ; Carlo,Gaudiano ^[7] ; Giuseppe,Manco ^[8] ; Giuseppina,Lacerra ^[1]

作者单位： Institute of Genetics and Biophysics "Adriano Buzzati Traverso", (IGB-ABT, CNR), National Research Council, 80131 Naples, Italy. ^[1] Azienda Ospedaliera Ospedali Civili Riuniti, Centro Trasfusionale e di Microcitemia, 92019 Sciacca, Italy. ^[2] Azienda Ospedaliero-Universitaria "Policlinico-Vittorio Emanuele", Servizio di Talassemia ed Emoglobinopatie, 95123 Catania, Italy. ^[3] ARNAS P.O. Civico e Di Cristina Benfratelli, U.O.s.d. Lab. Spec. Genetica Molecolare, 90127 Palermo, Italy. ^[4] P.O. Pellegrini A.S.L. Napoli1centro, 80135 Napoli, Italy. ^[5] Azienda Ospedaliera Universitaria OO. RR. San Giovanni di Dio e Ruggi D'Aragona, Medicina Trasfusionale, 84131 Salerno, Italy. ^[6] P.O. Madonna delle Grazie, Centro per la Lotta Contro le Microcitemie, ASL 4, 75100 Matera, Italy. ^[7] Institute of Biochemistry and Cell Biology (IBBC, CNR), National Research Council, 80131 Naples, Italy. ^[8]

主题词青少年(Adolescent);成年人(Adult);老年人(Aged);结合部位(Binding Sites);血蛋白质类(Blood Proteins);细胞, 培养的(Cells, Cultured);儿童(Child);女(雌)性(Female);葡糖醛酸基转移酶(Glucuronosyltransferase);血红蛋白A(Hemoglobin A);血红蛋白类, 异常(Hemoglobins, Abnormal);人类(Humans);意大利(Italy);男(雄)性(Male);中年人(Middle Aged);分子伴侣(Molecular Chaperones);突变(Mutation);表型(Phenotype);蛋白质结合(Protein Binding);蛋白质稳定性(Protein Stability);RNA稳定性(RNA Stability);RNA, 信使(RNA, Messenger);地中海贫血(Thalassemia)

DOI 10.3390/genes11080870

PMID 32751969

发布时间 2021-03-17

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Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.

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Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.

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