ABCB11 p.Ala257Val
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PMID: 23685087
[PubMed]
Soroka CJ et al: "Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations."
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207
A preliminary report from the same group finds that 4-PBA decreases pruritus and serum bile acid concentrations, and improves liver function within 3 months of treatment in 3 PFIC2 children harboring a least one missense mutation (A257V, G982R and T1210P) (Gonzales et al., 2012b).
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ABCB11 p.Ala257Val 23685087:207:231
status: NEW