From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene;Van gen naar ziekte; pseudoxanthoma elasticum en het ABCC6-gen

Nederlands Tijdschrift voor Geneeskunde

Volumn 148, Issue 32, 2004, Pages 1586-1589

  Bergen, A A B ^a   Plomp, A S ^a,b   Gorgels, T G M F ^a   De Jong, P T V M ^a,b,c  

^a Interuniv Oogheelkundig Instituut   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABCC6 GENE; ARTICLE; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ELASTIC FIBER; GENE; GENE MUTATION; HUMAN; MINERALIZATION; NETHERLANDS; PSEUDOXANTHOMA ELASTICUM; VISUAL DISORDER;

GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE; PSEUDOXANTHOMA ELASTICUM;

EID: 4444334749     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. Hu X, Plomp AS, Soest S van, Wijnholds J, Jong PTVM de, Bergen AAB. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol 2003;48:424-38.
2. Plomp AS, Hu X, Jong PTVM de, Bergen AAB. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet 2004; 126A:403-12.
3. Bergen AAB, Plomp AS, Schuurman EJ, Terry S, Breuning MH, Dauwerse H, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228-31.