PRJNA487655
Progressive familial intrahepatic cholestasis (PFIC) caused by the homozygous R148W mutation in SEMA7A
A female child patient (YCIB) carried with a homozygous R148W mutation in SEMA7A displayed the elevated levels of serum total bile acids (TBA), alanine transaminase (ALT) and aspartate transaminase (AST). Her brother (ECIB) and parents (Father: FIB; Mother: MIB) presented normal liver function, although these family members carried with a heterozygous R148W mutation in SEMA7A.