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Volumn 43, Issue 3, 1998, Pages 182-184

A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family

Author keywords

Coproporphyrinogen oxidase; Frame shift; Gene mutation; Hereditary coproporphyria; Single base deletion

Indexed keywords

COPROPORPHYRIN; COPROPORPHYRIN III; COPROPORPHYRINOGEN OXIDASE;

EID: 0031602324     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050065     Document Type: Article
Times cited : (6)

References (10)
  • 1
    • 0031015602 scopus 로고    scopus 로고
    • A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria
    • Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H (1997) A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. Hum Genet 99: 199-201
    • (1997) Hum Genet , vol.99 , pp. 199-201
    • Daimon, M.1    Gojyou, E.2    Sugawara, M.3    Yamatani, K.4    Tominaga, M.5    Sasaki, H.6
  • 2
    • 0028169056 scopus 로고
    • Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping
    • Delfau-Larue MH, Martasek P, Grandchamp B (1994) Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 3: 1325-1330
    • (1994) Hum Mol Genet , vol.3 , pp. 1325-1330
    • Delfau-Larue, M.H.1    Martasek, P.2    Grandchamp, B.3
  • 3
    • 0017811997 scopus 로고
    • Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria
    • Elder GH, Evans JO (1978) Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria. Biochem J 172: 345-347
    • (1978) Biochem J , vol.172 , pp. 345-347
    • Elder, G.H.1    Evans, J.O.2
  • 6
    • 0028927998 scopus 로고
    • A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria. a variant form of hereditary coproporphyria
    • Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y (1995) A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria. a variant form of hereditary coproporphyria. Hum Mol Genet 4: 275-278
    • (1995) Hum Mol Genet , vol.4 , pp. 275-278
    • Lamoril, J.1    Martasek, P.2    Deybach, J.C.3    Da Silva, V.4    Grandchamp, B.5    Nordmann, Y.6
  • 8
    • 0028347291 scopus 로고
    • Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
    • Martasek P, Nordmann Y, Grandchamp B (1994) Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet 3: 477-480
    • (1994) Hum Mol Genet , vol.3 , pp. 477-480
    • Martasek, P.1    Nordmann, Y.2    Grandchamp, B.3
  • 10
    • 0030820429 scopus 로고    scopus 로고
    • Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
    • Schreiber WE, Zhang X, Senz J, Jamani A (1997) Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene. Hum Mutat 10: 196-200
    • (1997) Hum Mutat , vol.10 , pp. 196-200
    • Schreiber, W.E.1    Zhang, X.2    Senz, J.3    Jamani, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.