Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

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第一作者： Boudour,Khabou

第一单位： Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia.

作者： Boudour,Khabou ^[1] ; Fakhri,Kallabi ^[2] ; Rim Ben,Abdelaziz ^[3] ; Ines,Maaloul ^[4] ; Hajer,Aloulou ^[4] ; Amel Ben,Chehida ^[5] ; Thouraya,Kammoun ^[4] ; Veronique,Barbu ^[6] ; Tahya Sellami,Boudawara ^[7] ; Faiza,Fakhfakh ^[1] ; Bassem,Khemakhem ^[8] ; Olfa Siala,Sahnoun ^[1]

作者单位： Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia. ^[1] Molecular and Human Genetics Laboratory, Faculty of Medicine, University of Sfax, Sfax, Tunisia. ^[2] Department of Pediatrics, Hospital La Rabta, Tunis, Tunisia.;Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia. ^[3] Department of Pediatrics, University Hospital Hedi Chaker, Sfax, Tunisia. ^[4] Department of Pediatrics, Hospital La Rabta, Tunis, Tunisia. ^[5] LCBGM, Medical Biology and Pathology Department, APHP, HUEP, St Antoine Hospital, Sorbonne University, Paris, France. ^[6] Department of Anatomy and Pathological cytology, Habib Bourguiba Hospital, Sfax, Tunisia. ^[7] Plant Biotechnology Laboratory, Faculty of Sciences, Sfax University, Sfax, Tunisia. ^[8]

关键词 PFIC genotype–phenotype correlation modifier variants molecular diagnosis structural modeling therapeutic management