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5. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Hu X; Plomp A; Wijnholds J; Ten Brink J; van Soest S; van den Born LI; Leys A; Peek R; de Jong PT; Bergen AA Eur J Hum Genet; 2003 Mar; 11(3):215-24. PubMed ID: 12673275 [TBL] [Abstract][Full Text] [Related]
9. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Hu X; Plomp AS; van Soest S; Wijnholds J; de Jong PT; Bergen AA Surv Ophthalmol; 2003; 48(4):424-38. PubMed ID: 12850230 [TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]. Bergen AA; Plomp AS; Gorgels TG; de Jong PT Ned Tijdschr Geneeskd; 2004 Aug; 148(32):1586-9. PubMed ID: 15382558 [TBL] [Abstract][Full Text] [Related]
11. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. Chassaing N; Martin L; Calvas P; Le Bert M; Hovnanian A J Med Genet; 2005 Dec; 42(12):881-92. PubMed ID: 15894595 [TBL] [Abstract][Full Text] [Related]
12. Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE). Noji Y; Inazu A; Higashikata T; Nohara A; Kawashiri MA; Yu W; Todo Y; Nozue T; Uno Y; Hifumi S; Mabuchi H Intern Med; 2004 Dec; 43(12):1171-6. PubMed ID: 15645653 [TBL] [Abstract][Full Text] [Related]
13. Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report. Almutairi R; Al-Sabah H Cureus; 2023 Oct; 15(10):e47041. PubMed ID: 38022106 [TBL] [Abstract][Full Text] [Related]
14. Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum. Perdu J; Germain DP Hum Mutat; 2001; 17(1):74-5. PubMed ID: 11139250 [TBL] [Abstract][Full Text] [Related]
15. A case of actinic granuloma associated with periumbilical perforating pseudoxanthoma elasticum. Lee HW; Park MA; Lee SC; Won YH; Chun IK Acta Derm Venereol; 1996 Mar; 76(2):133-5. PubMed ID: 8740268 [TBL] [Abstract][Full Text] [Related]
16. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Germain DP; Perdu J; Remones V; Jeunemaitre X Biochem Biophys Res Commun; 2000 Aug; 274(2):297-301. PubMed ID: 10913334 [TBL] [Abstract][Full Text] [Related]
19. Mutations in ABCC6 cause pseudoxanthoma elasticum. Bergen AA; Plomp AS; Schuurman EJ; Terry S; Breuning M; Dauwerse H; Swart J; Kool M; van Soest S; Baas F; ten Brink JB; de Jong PT Nat Genet; 2000 Jun; 25(2):228-31. PubMed ID: 10835643 [TBL] [Abstract][Full Text] [Related]
20. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. Iwanaga A; Okubo Y; Yozaki M; Koike Y; Kuwatsuka Y; Tomimura S; Yamamoto Y; Tamura H; Ikeda S; Maemura K; Tsuiki E; Kitaoka T; Endo Y; Mishima H; Yoshiura KI; Ogi T; Tanizaki H; Wataya-Kaneda M; Hattori T; Utani A J Dermatol; 2017 Jun; 44(6):644-650. PubMed ID: 28186352 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]