PMID: 25265166

Kuzaj P, Kuhn J, Michalek RD, Karoly ED, Faust I, Dabisch-Ruthe M, Knabbe C, Hendig D
Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.
PLoS One. 2014 Sep 29;9(9):e108336. doi: 10.1371/journal.pone.0108336. eCollection 2014., [PubMed]
Sentences
No. Mutations Sentence Comment
19 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25265166:19:173
status: NEW
view ABCC6 p.Arg1141* details
 The prevalence of the autosomal recessive disease PXE is estimated to be between 1:25.000 and 1:100.000 [4], and to date up to 350 ABCC6 mutations were described [7] with p.R1141X (20-30%) and c.EX23_EX29del (515%) being the most frequent in European PXE patients [8]. Login to comment 159 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25265166:159:148
status: NEW
view ABCC6 p.Arg1141* details
 Interestingly, fibroblasts from PXE patient 2 showing the lowest protein content, were found to carry two heterozygous ABCC6 mutations c.3421C.T (p.R1141X) and c.2787+1G.T. Login to comment 160 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25265166:160:180
status: NEW
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 Furthermore, PXE patient 5 with 69% protein level detected, exhibit a genetic variation within the promotor region (c.-90ins14) in addition to the frequently observed c.3421C.T (p.R1141X) mutation. Login to comment 342 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 25265166:342:87
status: NEW
view ABCC6 p.Arg1141* details
 Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, et al. (2003) Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Login to comment