Article
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals - 1 Nov 2016
Fathy Mona, Kamal Manal, Al-Sharkawy Marwa, Al-Karaksy Hanaa, Hassan Nora
Abstract excerpt
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...
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