PMID: 12746424

Mullenbach R, Linton KJ, Wiltshire S, Weerasekera N, Chambers J, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
J Med Genet. 2003 May;40(5):e70., [PubMed]
Sentences
No. Mutations Sentence Comment
148 ABCB4 p.Arg150Lys
X
ABCB4 p.Arg150Lys 12746424:148:42
status: NEW
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 • We have identified a new variant R150K that segregates with ICP in a UK pedigree and that is present in one additional case. Login to comment 195 ABCB4 p.Arg150Lys
X
ABCB4 p.Arg150Lys 12746424:195:166
status: NEW
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 The only exceptions are 959C>T, which has been described in two patients with gallstones and ICP from two independent, non-consanguineous families,19 and the 481G>A (R150K) mutation reported in this study. Login to comment 218 ABCB4 p.Arg150Lys
X
ABCB4 p.Arg150Lys 12746424:218:6
status: NEW
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 ABCB4 R150K may have a direct effect specific to the binding of phosphatidylcholine. Login to comment 226 ABCB4 p.Arg150Lys
X
ABCB4 p.Arg150Lys 12746424:226:61
status: NEW
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 In summary, the current study has identified a new mutation (R150K) that cosegregates with ICP in a UK pedigree and an unrelated case. Login to comment 227 ABCB4 p.Arg150Lys
X
ABCB4 p.Arg150Lys 12746424:227:45
status: NEW
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 However, no functional effect was shown when R150K was expressed in P-gp1. Login to comment