ABCB4 p.Gly536Ala
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PMID: 18083082
[PubMed]
Floreani A et al: "Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy."
No.
Sentence
Comment
10
We found 3 non-synonymous heterozygous mutations in exon 14 (E528D, R549H, G536A), 1 in exon 15 (R590Q) and 2 in exon 16 (R652G, T6671).
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ABCB4 p.Gly536Ala 18083082:10:75
status: NEW