Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ‐glutamyltransferase

ConclusionsWe successfully identified 5 pathogenic synonymous or intronic variants with some common features. These features might help to choose the right one for further functional assay.

Source: Hepatology Research - January 9, 2018 Category: Internal Medicine Authors: Neng ‐Li Wang, Yi‐Ling Qiu, Wen‐Cai Guan, Gang Li, Yi Lu, Mei‐Hong Zhang, Wei‐Sha Luan, Jian‐She Wang Tags: Original Article Source Type: research