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- Title
Clinical Phenotypes and ABCC6 Gene Mutations in Brazilian Families with Pseudoxanthoma Elasticum.
- Authors
Silvério Faria, Caroline; Qiaoli Li; Haitao Guo; Uitto, Jouni; Satomi Takeno, Sylvia; de Arruda Cardoso Smithm, Marília; Freire-Maia, Dértia Villalba
- Abstract
The article discusses a study which analyzed ABCC6 mutations in Brazilian patients with pseudoxanthoma elasticum (PXE). It noted that the study contributed to the database of ABCC6 mutations in PXE families from various ethnic backgrounds. It concluded that the identification of specific mutations in these families is important in the confirmation of the diagnosis.
- Subjects
PSEUDOXANTHOMA elasticum; VASCULAR diseases; CONNECTIVE tissue diseases; SKIN diseases; GENETIC mutation
- Publication
Acta Dermato-Venereologica, 2013, Vol 93, Issue 6, p739
- ISSN
0001-5555
- Publication type
Article
- DOI
10.2340/00015555-1570