PMID: 17880583

Bowen AR, Gotting C, LeBoit PE, McCalmont TH
Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
J Cutan Pathol. 2007 Oct;34(10):777-81., [PubMed]
Sentences
No. Mutations Sentence Comment
42 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17880583:42:31
status: NEW
view ABCC6 p.Arg1141* details
 The analysis of the c.3421C.T (R1141X) mutation through rapid-cycle PCR and hybridization analysis with the LightCycler (Roche, Penzberg, Germany) was performed as described previously,7 with the following modifications: (1) an improved primer mixture containing the oligonucleotides E24LCU (5#-CTCCCATCCATCCTTCT-3#), E24LCL (5#-CCTCGCTACCATACAATATGA-3#) and Ex24LCL_T (5#-CCTCTCTACCATACAA- TATGA-3#) in equal amounts was used in the assay to improve genotyping reliability in patients carrying the intronic polymorphism IVS24 1 83C.A in the ABCC6 gene, (2) 3 ml of DNA isolated from paraffin-embedded tissues was used in the reaction mixture (20 ml) and (3) amplification was performed using 50 cycles of 95°C for 1 s, 56°C for 10 s and 72°C for 20 s to increase signal intensity. Login to comment