Dubin-Johnson Syndrome in twins linked to novel genetic mutations
HMN 2024 – (A) Localization of the R393 and L1211 in a predicted topology model of MRP2 protein. The full-length model was generated by the open-source tool Protter (http://wlab.ethz.ch/protter/start/). (B) Sequencing analysis of the ABCC2 gene indicates the disease-associated variant of probands (II-2, II-3), the missense mutation 1177C>T predicated to cause the mutation Arg393Trp (R393W) in the amino-acid […]