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  • Title: Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
    Author: Fathy M, Kamal M, Al-Sharkawy M, Al-Karaksy H, Hassan N.
    Journal: Biomarkers; 2016 Nov; 21(7):573-7. PubMed ID: 27075526.
    Abstract:
    AIM OF WORK: To estimate the frequency of mutations involving exons 6, 8 and 9 of Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene among children with progressive intrahepatic cholestasis with high γ-GT activity (PFIC3). SUBJECTS AND METHODS: Cross sectional study was conducted on 30 children with PFIC3. Genotyping was performed by sequencing analysis of exons 6, 8 and exon 9 of ABCB4 gene. RESULTS: Heterozygous synonymous polymorphic variant was detected in exon 6 (rs 1202283) and in exon 8 (rs 2109505). No mutations in studied exons were detected. CONCLUSION: Exons 6, 8 and 9 mutations of ABCB4 gene are not common among Egyptian children with PFIC3.
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