PMID: 16543900

Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.
J Invest Dermatol. 2006 Jul;126(7):1497-505. Epub 2006 Mar 16., [PubMed]
Sentences
No. Mutations Sentence Comment
177 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16543900:177:26
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16543900:177:33
status: NEW
view ABCC6 p.Arg1141* details
 21 Fibroblast U21 (M) PXE R1141X/R1141X ? Login to comment 178 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 16543900:178:251
status: NEW
view ABCC6 p.Arg1141* details
ABCC6 p.Arg391Gly
X
ABCC6 p.Arg391Gly 16543900:178:168
status: NEW
view ABCC6 p.Arg391Gly details
 Serum samples Control #1 (M) Normal wt/wt 45 Control #2 (M) Normal wt/wt 34 Control #3 (pool)1 Normal wt/wt Av. 68 Control #4 (pool)1 Normal wt/wt Av. 18 PXE 1 (F) PXE R391G/del23-29 50 PXE 2 (F) PXE IVS21+1 G4T/4104delC 51 PXE 3 (F) PXE IVS13-29 T4A/R1141X 41 PXE 4 (M) PXE ?/? Login to comment 180 ABCC6 p.Tyr768*
X
ABCC6 p.Tyr768* 16543900:180:17
status: NEW
view ABCC6 p.Tyr768* details
ABCC6 p.Tyr768*
X
ABCC6 p.Tyr768* 16543900:180:23
status: NEW
view ABCC6 p.Tyr768* details
 69 PXE 6 (M) PXE Y768X/Y768X 18 1 Control #3: pool of 10 samples, age 465, control #4: pool of 15 samples age o30. Av.: average, SMC: smooth muscle cell. Login to comment