ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Avena A, Puggelli S, Morris M, Cerny A, Andrade AR, Pareti E, Bihl F, Cassatella D, Moix I, Merlo E, Rougemont AL, Majno-Hurst P, Vergani D, Mieli-Vergani G, Terziroli Beretta-Piccoli B.
Avena A, et al.
Dig Liver Dis. 2021 Mar;53(3):329-344. doi: 10.1016/j.dld.2020.12.003. Epub 2020 Dec 31.
Dig Liver Dis. 2021.
PMID: 33390354
Genotype: Families A and C: c.2211G>A (p.Ala737=) combined with c.959C>T (p.Ser320Phe) in one subject; Family B: c.1130T>C (p.Ile377Thr); Family D: large deletion removing ABCB4 exons 1-4 plus ABCB1, RUNDC3B, SLC25A40, DBF4, ADAM22 exons 1-3; Family E: c.1565T> …
Genotype: Families A and C: c.2211G>A (p.Ala737=) combined with c.959C>T (p.Ser320Phe) in one subject; Family B: c.1130T>C (p.Ile37 …