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Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) β-Thalassemia.

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第一作者： Petros,Patsali

第一单位： Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.

作者： Petros,Patsali ^[1] ; Panayiota,Papasavva ^[2] ; Soteroulla,Christou ^[3] ; Maria,Sitarou ^[4] ; Michael N,Antoniou ^[5] ; Carsten W,Lederer ^[2] ; Marina,Kleanthous ^[2]

作者单位： Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. ^[1] Department of Molecular Genetics Thalassaemia, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.;Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. ^[2] Thalassaemia Clinic Nicosia, Ministry of Health, Nicosia 1474, Cyprus. ^[3] Thalassaemia Clinic Larnaca, Ministry of Health, Larnaca 6301, Cyprus. ^[4] Department of Medical and Molecular Genetics, King's College London, London SE1 9RT, UK. ^[5]

关键词 absolute quantification duplex quantitative PCR splice defect splicing transcript variants β-thalassemia

医学主题词选择性剪接(Alternative Splicing);细胞, 培养的(Cells, Cultured);人类(Humans);突变(Mutation);RNA, 信使(RNA, Messenger);β珠蛋白类(beta-Globins);β地中海贫血(beta-Thalassemia)

DOI 10.3390/ijms21186671

PMID 32933098

发布时间 2024-03-29

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