Compound Heterozygous for Asian Inversion Deletion Gγ (Aγδβ)<sup>0</sup> and IVS1-5 (G→C) β Thalassemia Mutation in a Transfusion-Dependent Patient.

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第一作者： Sujata,Dixit

第一单位： Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.;School of Biotechnology, Kalinga Institute of Industrial Technology (KIIT) University, Bhubaneswar, 751024, Odisha, India.

作者： Sujata,Dixit ^[1] ; Arundhuti,Das ^[2] ; Swati Sudeshna,Panigrahi ^[2] ; Palash,Das ^[3] ; Priyanka,Samal ^[4] ; Madhusmita,Bal ^[2] ; Sanghamitra,Pati ^[2] ; Manoranjan,Ranjit ^[5]

作者单位： Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.;School of Biotechnology, Kalinga Institute of Industrial Technology (KIIT) University, Bhubaneswar, 751024, Odisha, India. ^[1] Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India. ^[2] Department of Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, 751024, Odisha, India. ^[3] Department of Hematology, Institute of Medical Sciences (IMS) & SUM Hospital, Siksha 'O' Anusandhan (SOA) University, Bhubaneswar, 751003, Odisha, India. ^[4] Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India. ranjit62@gmail.com. ^[5]

主题词人类(Humans);β地中海贫血(beta-Thalassemia);突变(Mutation);胎儿血红蛋白(Fetal Hemoglobin);杂合子(Heterozygote)

DOI 10.1007/s12098-023-04825-0

PMID 37707781

发布时间 2024-02-15

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