PMID: 22624841

Zuily S, Angioi K, Fauret AL, Golmard L, Saadi L, Huttin O, Anxionnat R, Evon P, Marie PY, Jeunemaitre X, Wahl D
Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum.
J Am Coll Cardiol. 2012 May 29;59(22):1991. doi: 10.1016/j.jacc.2011.11.067., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCC6 p.Asp718Gly
X
ABCC6 p.Asp718Gly 22624841:6:82
status: NEW
view ABCC6 p.Asp718Gly details
 Patient was compound heterozygous for 2 mutations in exons 17 (c.2153Ab0e;G, p.Asp718Gly) (D) and 24 (c.3421Cb0e;T, p.Arg1141X) (E) of the ABCC6 gene. Login to comment 7 ABCC6 p.Asp718Gly
X
ABCC6 p.Asp718Gly 22624841:7:4
status: NEW
view ABCC6 p.Asp718Gly details
 The Asp718Gly mutation has not been described before, and its functionality is supported by its location in the ATPase domain, bioinformatics prediction tools, and cosegregation of the 2 mutations with the disease (F). Login to comment