首页> Clinical chemistry and laboratory medicine> Evolution of acquired haemoglobin H disease monitored by capillary electrophoresis: a case of a myelofibrotic patient with a novel <i>ATRX</i> mutation.

Evolution of acquired haemoglobin H disease monitored by capillary electrophoresis: a case of a myelofibrotic patient with a novel <i>ATRX</i> mutation.

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第一作者： Marco,Rosetti

第一单位： Clinical Pathology Unit, Hub Laboratory, 390233 AUSL della Romagna , Cesena, Italy.

作者： Marco,Rosetti ^[1] ; Giovanni,Poletti ^[1] ; Rosa,Catapano ^[2] ; Silvia,Trombetti ^[3] ; Michela,Grosso ^[4] ; Sauro,Maoggi ^[5] ; Giovanni,Ivaldi ^[6] ; Evita,Massari ^[1] ; Marta,Monti ^[1] ; Melania,Olivieri ^[1] ; Valentina,Polli ^[1] ; Alice,Clementoni ^[1] ; Tommaso,Fasano ^[1]

作者单位： Clinical Pathology Unit, Hub Laboratory, 390233 AUSL della Romagna , Cesena, Italy. ^[1] Ceinge-Biotecnologie Avanzate "Franco Salvatore", Naples, Italy. ^[2] Department of Molecular Medicine and Medical Biotechnology, 9307 University of Naples Federico II , Naples, Italy. ^[3] Ceinge-Biotecnologie Avanzate "Franco Salvatore", Naples, Italy.;Department of Molecular Medicine and Medical Biotechnology, 9307 University of Naples Federico II , Naples, Italy. ^[4] Sebia Italia srl, Bagno a Ripoli, Florence, Italy. ^[5] Formerly, Laboratorio Genetica Umana, Ospedali Galliera, Genova, Italy. ^[6]

关键词 ATRX gene mutation HbH disease capillary electrophoresis

医学主题词人类(Humans);突变(Mutation);电泳, 毛细管(Electrophoresis, Capillary);α地中海贫血(alpha-Thalassemia);男(雄)性(Male);核蛋白质类(Nuclear Proteins);中年人(Middle Aged)

DOI 10.1515/cclm-2024-0452

PMID 38860964

发布时间 2024-10-23

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