PMID: 15505619

Potocnik U, Ferkolj I, Glavac D, Dean M
Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis.
Genes Immun. 2004 Nov;5(7):530-9., [PubMed]
Sentences
No. Mutations Sentence Comment
19 ABCB1 p.Glu1144Lys
X
ABCB1 p.Glu1144Lys 15505619:19:60
status: NEW
view ABCB1 p.Glu1144Lys details
 We have identified a nonsynonymous substitution in exon 28 (E1144K), in a patient with UC. Login to comment 75 ABCB1 p.Gly1265Ser
X
ABCB1 p.Gly1265Ser 15505619:75:25
status: NEW
view ABCB1 p.Gly1265Ser details
 We previously identified G1265S in exon 28 in a patient with CRC.12,13 Neither of these two mutations was additionally identified in any other CRC or IBD patient nor in 355 healthy individuals. Login to comment 76 ABCB1 p.Asn183Ser
X
ABCB1 p.Asn183Ser 15505619:76:15
status: NEW
view ABCB1 p.Asn183Ser details
ABCB1 p.Gln1107Pro
X
ABCB1 p.Gln1107Pro 15505619:76:74
status: NEW
view ABCB1 p.Gln1107Pro details
 Interestingly, N183S in exon 7, S1140T in exon 26,29 P103L in exon 5, and Q1107P in exon 26 were all identified in apparently healthy individuals. Login to comment