PMID: 16604369

Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
ABCC6 and pseudoxanthoma elasticum.
Pflugers Arch. 2007 Feb;453(5):685-91. Epub 2006 Apr 8., [PubMed]
Sentences
No. Mutations Sentence Comment
82 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16604369:82:21
status: NEW
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 Two ABCC6 mutations, R1141X and del(ex23_29), occur very frequently, probably due to founder effects and genetic drift. Login to comment 83 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16604369:83:0
status: NEW
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 R1141X accounts for up to 30% of mutations found in European populations [9, 18], but accounts for only 4% of the US PXE population. Login to comment 85 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16604369:85:0
status: NEW
view ABCC6 p.Arg1141* details
 R1141X probably produces an instable ABCC6 mRNA which is rapidly degraded by nonsense mediated RNA decay [18, 29]. Login to comment 86 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16604369:86:9
status: NEW
view ABCC6 p.Arg1141* details
 Finally, R1141X may be associated with premature coronary artery disease [48]. Login to comment