Pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene.
Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue. We describe a patient with PXE who does not have mutations in exons 16, 24, 27, 28, and 30 of the MRP6 gene.
Ohtani
Toshio
T
Department of Dermatology, Wakayama Medical University, Japan.
Furukawa
Fukumi
F
D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human