ABCB11 p.Arg1057Cys
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PMID: 17947449
[PubMed]
Kagawa T et al: "Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells."
No.
Sentence
Comment
139
The positions of 8 PFIC2 mutations (E297G, K461E, D482G, G982R, R1057C, R1153C, 3767-3768insC, and R1268Q) and 2 BRIC2 mutations (A570T and R1050C) are indicated by ଝ and ଙ, respectively.
X
ABCB11 p.Arg1057Cys 17947449:139:64
status: NEW