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Volumn 60, Issue 7, 2000, Pages 611-616

Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda

Author keywords

Genetic diagnosis; Mutation detection; Porphyria cutanea tarda genetics; Uroporphyrinogen decarboxylase

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0034527038     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/003655100448365     Document Type: Article
Times cited : (19)

References (22)
  • 11
    • 0026733043 scopus 로고
    • Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
    • (1992) Hum Genet , vol.89 , pp. 548-552
    • De Verneuil, H.1    Bourgeois, F.2    De Rooij, F.3
  • 12
    • 0032231331 scopus 로고    scopus 로고
    • Familial porphyria cutanea tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
    • (1998) Am J Hum Genet , vol.63 , pp. 1363-1375
    • Mendez, M.1    Sorkin, L.2    Rossetti, M.V.3
  • 13
    • 0002901758 scopus 로고
    • Porphyria cutanea tarda: A multifactorial disease
    • Champion RH, Rye RJ, editors. Recent advances in dermatology
    • (1990) , pp. 55-69
    • Elder, G.H.1
  • 18
    • 0032819024 scopus 로고    scopus 로고
    • Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT
    • (1999) Hum Mutat , vol.14 , pp. 222-232
    • Christiansen, L.1    Ged, C.2    Hombrados, I.3
  • 20


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.