ABCB4 p.Gly535Asp
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PMID: 19840255
[PubMed]
Poupon R et al: "Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3."
No.
Sentence
Comment
138
In this report, the patient harboured a heterozygous missense alteration (Gly535Asp) and had the features of both 'juvenile cholelithiasis` and cirrhosis.
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ABCB4 p.Gly535Asp 19840255:138:74
status: NEW
PMID: 18781607
[PubMed]
Gotthardt D et al: "A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults."
No.
Sentence
Comment
210
Lucena et al.12 report a woman heterozygous for G535D in ABCB4, who had ICP, cholelithiasis and cholestatic cirrhosis and whose daughter had cholestasis.
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ABCB4 p.Gly535Asp 18781607:210:48
status: NEW
PMID: 16696816
[PubMed]
Floreani A et al: "Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations."
No.
Sentence
Comment
35
MDR3 mutations reported in the literature Mutation (codon) Exon Reference (R144X) 6 Gendrot et al.5 481G>A (R150K) 6 Mu¨llenbach et al.6 426-432del (132) 6 DeVree et al.13 959C>T (S320F) 9 Rosmordurc et al.,14 Pauli-Magnus et al.9 (G535D) 14 Lucena et al.7 1669 C>A (A546D) 14 Dixon et al.4 1712 del T (571) 14 Jacquemin et al.8, 15 2285 G>A (G762E) 18 Pauli-Magnus et al.9 2901 C>T (R957X) 23 DeVree et al.13 conditions included an initial denaturation step at 94 °C for 5 min, followed by 40 cycles of denaturation at 94 °C for 30 s, annealing at 55 °C for 30 s and extension at 72 °C for 30 s.
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ABCB4 p.Gly535Asp 16696816:35:237
status: NEW
PMID: 12671900
[PubMed]
Lucena JF et al: "A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis."
No.
Sentence
Comment
60
Interestingly, the daughter with the G535D mutation developed in the follow-up intrahepatic cholestasis of pregnancy at the age of 22 years.
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ABCB4 p.Gly535Asp 12671900:60:37
status: NEW88 As indicated above, G535D is a missense mutation that does not prevent the canalicular expression of the protein, but it seems to be associated with a moderate reduction in the levels of the transporter.
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ABCB4 p.Gly535Asp 12671900:88:20
status: NEW