ABCB4 p.Asp243Ala
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PMID: 14999697
[PubMed]
Pauli-Magnus C et al: "BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis."
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Comment
111
Nonsynonymous changes observed as singletons in our sample set coded for the following amino acid changes: L73V, D243A, I367V, K435T, E1099G, and G1251Q.
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ABCB4 p.Asp243Ala 14999697:111:113
status: NEW116 Four variant sites (T927C, A1099G 3 I367V, G1769A 3 R590Q, and A3296G 3 E1099G) were only found in the control group, 4 were specific to PBC patients (C217G 3 L73V, A728C 3 D243A, A1304C 3 K435T, and A3751C 3 K1251Q), while 1 was PSC-specific (C1633T 3 R545C).
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ABCB4 p.Asp243Ala 14999697:116:173
status: NEW