ABCC6 p.Glu507*
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PMID: 17693525
[PubMed]
Zarbock R et al: "Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset."
No.
Sentence
Comment
142
b Patients who are (a) homozygous for PXE mutation p.R1141X, c.2787 ϩ 1GϾT, or c.4434delA; and (b) compound heterozygotes for 2 of the PXE mutations p.R1141X, c.2787 ϩ 1GϾT, Ex23_Ex29del, c.4182delG, p.Q378X, c.1995delG, p.E507X, and c.2835_2850del16.
X
ABCC6 p.Glu507* 17693525:142:247
status: NEW