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Volumn 33, Issue 5, 2008, Pages 602-605

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene

Author keywords

[No Author keywords available]

Indexed keywords

CHLOROQUINE; IRON; LIOTHYRONINE; ORAL CONTRACEPTIVE AGENT; PORPHYRIN DERIVATIVE; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 49649122487     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02734.x     Document Type: Article
Times cited : (11)

References (10)
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  • 3
    • 85047691839 scopus 로고
    • Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda
    • Koszo F, Morvay M, Dobozy A, Simon M. Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda. Br J Dermatol 1992 126: 446 9.
    • (1992) Br J Dermatol , vol.126 , pp. 446-9
    • Koszo, F.1    Morvay, M.2    Dobozy, A.3    Simon, M.4
  • 4
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 1988 16: 1215.
    • (1988) Nucl Acids Res , vol.16 , pp. 1215
    • Miller, S.1    Dykes, D.2    Polesky, H.3
  • 5
    • 0035316211 scopus 로고    scopus 로고
    • Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)
    • Cappellini MD, Martinez di Montemuros F, Tavazzi D et al. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Hum Mutat 2001 17: 350.
    • (2001) Hum Mutat , vol.17 , pp. 350
    • Cappellini, M.D.1    Martinez Di Montemuros, F.2    Tavazzi, D.3
  • 6
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    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen J, Antonarakis S. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000 15: 7 12.
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    • Den Dunnen, J.1    Antonarakis, S.2
  • 7
    • 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
    • Christiansen L, Ged C, Hombrados I et al. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. Hum Mutat 1999 14: 222 32.
    • (1999) Hum Mutat , vol.14 , pp. 222-32
    • Christiansen, L.1    Ged, C.2    Hombrados, I.3
  • 8
    • 0028211449 scopus 로고
    • Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria
    • Meguro K, Fujita H, Ishida N et al. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994 102: 681 5.
    • (1994) J Invest Dermatol , vol.102 , pp. 681-5
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  • 9
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    • Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus
    • Ged C, Ozalla D, Herrero C et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002 138: 957 60.
    • (2002) Arch Dermatol , vol.138 , pp. 957-60
    • Ged, C.1    Ozalla, D.2    Herrero, C.3
  • 10
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    • Hepatoerythropoietic porphyria: A missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern
    • Armstrong DK, Sharpe PC, Chambers CR et al. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 2004 151: 920 3.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.