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Article

ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.

The Journal of pediatrics - 1 Sept 2021

Al-Hussaini Abdulrahman, Lone Khurram, Bashir Muhammed Salman, Alrashidi Sami, Fagih Mosa, Alanazi Alanoud, AlYaseen Salem, Almayouf Abdulaziz, Alruwaithi Muhanad, Asery Ali

Abstract excerpt

OBJECTIVES: To characterize the clinical, laboratory, histologic, molecular features, and outcome of gene-confirmed progressive familial intrahepatic cholestasis (PFIC) 1-3 among Arabs and to evaluate for "genotype-phenotype" correlations. STUDY DESIGN: We retrospectively reviewed charts of 65 children (ATP8B1 defect = 5, ABCB11 = 35, ABCB4 = 25) who presented between 2008 and 2019 with cholestasis. The clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33915153
DOI: 10.1016/j.jpeds.2021.04.040

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