PMID: 21603348

Hesse RJ, Groetsch J, Burshell A
Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease.
Ochsner J. 2010 Spring;10(1):13-5., [PubMed]
Sentences
No. Mutations Sentence Comment
18 ABCC6 p.Arg1138Trp
X
ABCC6 p.Arg1138Trp 21603348:18:63
status: NEW
view ABCC6 p.Arg1138Trp details
 One of us investigated the role of 2 ABCC6 mutations (R39G and R1138W) associated with bone density loss in patients with PXE (A.B., unpublished data). Login to comment 29 ABCC6 p.Arg1138Trp
X
ABCC6 p.Arg1138Trp 21603348:29:11
status: NEW
view ABCC6 p.Arg1138Trp details
 DISCUSSION R1138W is an established mutation in a large intracellular loop of ABCC6 in which mutants are often identified. Login to comment