PMID: 11745043

Jacquemin E
Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases.
Semin Liver Dis. 2001 Nov;21(4):551-62., [PubMed]
Sentences
No. Mutations Sentence Comment
109 ABCB4 p.Arg957*
X
ABCB4 p.Arg957* 11745043:109:424
status: NEW
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 This is likely because the cholesterol saturation index is abnormally increased in the bile of PFIC3 patients (personal communication, M. Dumont, E. Jacquemin, Hôpital Beaujon, Hôpital Bicêtre, Paris, MDR3 DEFICIENCY/JACQUEMIN 557 Table 2 Intrahepatic Cholestasis of Pregnancy and Heterozygous MDR3 Deficiency Family Mutation Protein GGT History (AA) Consequence (N < 17 U/L) References 23-25 Patient 1 PFIC3 R957X Truncation ? Login to comment 110 ABCB4 p.Arg652Gly
X
ABCB4 p.Arg652Gly 11745043:110:71
status: NEW
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 TMD11 Patient 2 PFIC3 571 Truncation 41 ICP Frameshift Patient 3 PFIC3 R652G Polymorphism ? Login to comment 112 ABCB4 p.Arg652Gly
X
ABCB4 p.Arg652Gly 11745043:112:14
status: NEW
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 Patient 4* No R652G Polymorphism > N progesterone Linker ? Login to comment 113 ABCB4 p.Ala546Asp
X
ABCB4 p.Ala546Asp 11745043:113:26
status: NEW
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 Reference 37 Patient 1 No A546D Defect of trafficking 50 First WalkerB motif PFIC3, progressive familial intrahepatic cholestasis type 3; MDR3, multidrug resistance 3; ICP, intrahepatic cholestasis of pregnancy; GGT, gamma-glutamyltransferase (N, normal value is from reference 45); AA, amino acid; TMD, transmembrane domain; *, personal data (E. Jacquemin). Login to comment