ABCB4 p.Arg545Gly
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PMID: 18482588
[PubMed]
Ziol M et al: "ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults."
No.
Sentence
Comment
56
As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1.
X
ABCB4 p.Arg545Gly 18482588:56:150
status: NEW94 1633AϾG R545G 11 M 29 No - No - Missense 14c c.
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ABCB4 p.Arg545Gly 18482588:94:14
status: NEW95 1576GϾT V526F aICP (intrahepatic cholestasis of pregnancy).
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ABCB4 p.Arg545Gly 18482588:95:14
status: NEW57 As described in Figure 1, 3 (T175A, R590Q, A934T) have been previously described in patients with LPAC or ICP.8,13 Conversely, 5 (R47X, V526F, A539T, R545G, I738L) have not been previously described.20 The frequency of each mutation is indicated in Figure 1.
X
ABCB4 p.Arg545Gly 18482588:57:150
status: NEW