PMID: 25383264

Uitto J, Jiang Q, Varadi A, Bercovitch LG, Terry SF
PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.
Expert Opin Orphan Drugs. 2014 Jun 1;2(6):567-577., [PubMed]
Sentences
No. Mutations Sentence Comment
49 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25383264:49:72
status: NEW
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 In particular, heterozygous carriers of the loss-of-function mutation p.R1141X, the most common mutation in the Caucasion populations, is associated with a strong increase in the prevalence of coronary artery disease [17-19] Uitto et al. Page 3 3. Login to comment 149 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25383264:149:96
status: NEW
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 Approximately 40% of all ABCC6 gene mutations in patients with PXE consist of PTCs, including p.R1141X, which accounts ~25% of all mutations in PXE [8]. Login to comment 231 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25383264:231:37
status: NEW
view ABCC6 p.Arg1141* details
 Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Login to comment 235 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25383264:235:61
status: NEW
view ABCC6 p.Arg1141* details
 K&#f6;bl&#f6;s G, Andrikovics H, Proh&#e1;szka Z, et al. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Login to comment