ABCB4 p.Arg144*
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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.Arg144* 16696816:35:75
status: NEW
PMID: 12624161
[PubMed]
Gendrot C et al: "A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy."
No.
Sentence
Comment
156
In the first patient, the sequence analysis showed a heterozygous substitution (CGA- TGA) in codon 144, which creates a stop codon (R144X) (fig 1).
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ABCB4 p.Arg144* 12624161:156:132
status: NEW162 The R144X mutation destroys a SalI restriction site and we used a PCR restriction test to search for this mutation in the control group.
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ABCB4 p.Arg144* 12624161:162:4
status: NEW163 No R144X mutation was detected in any of the 100 DNA samples.
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ABCB4 p.Arg144* 12624161:163:3
status: NEW166 This R144X mutation is the most proximal truncating mutation reported in this disease, unique to pregnancy (fig 1).
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ABCB4 p.Arg144* 12624161:166:5
status: NEW