메뉴 건너뛰기




Volumn 48, Issue 2, 2007, Pages 145-147

A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria

Author keywords

Erythropoietic protoporphyria; Genodermatosis; Mutation analysis; Splicing mutation

Indexed keywords

FERROCHELATASE;

EID: 34548512823     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2007.07.004     Document Type: Letter
Times cited : (7)

References (6)
  • 1
    • 0003436550 scopus 로고    scopus 로고
    • Mendelian inheritance in man
    • Johns Hopkins University Press, Baltimore pp. 1566-1568
    • McKusick V.A. Mendelian inheritance in man. A catalog of human genes and genetic disorders (1998), Johns Hopkins University Press, Baltimore pp. 1566-1568
    • (1998) A catalog of human genes and genetic disorders
    • McKusick, V.A.1
  • 2
    • 0034523846 scopus 로고    scopus 로고
    • Porphyrins, porphyrin metabolism and porphyrias. Part IV. Pathophysiology of erythropoietic protoporphyria-diagnosis, care and monitoring of the patient
    • Thunell S., Harper P., and Brun A. Porphyrins, porphyrin metabolism and porphyrias. Part IV. Pathophysiology of erythropoietic protoporphyria-diagnosis, care and monitoring of the patient. Scand J Clin Lab Invest 60 (2000) 581-604
    • (2000) Scand J Clin Lab Invest , vol.60 , pp. 581-604
    • Thunell, S.1    Harper, P.2    Brun, A.3
  • 3
    • 0026576256 scopus 로고
    • Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18
    • Taketani S., Inazawa J., Nakahashi Y., Abe T., and Tokunaga R. Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18. Eur J Biochem 205 (1992) 217-222
    • (1992) Eur J Biochem , vol.205 , pp. 217-222
    • Taketani, S.1    Inazawa, J.2    Nakahashi, Y.3    Abe, T.4    Tokunaga, R.5
  • 4
    • 33845536988 scopus 로고    scopus 로고
    • Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
    • Pierro E.D., Brancaleoni V., Moriondo V., Besana V., and Cappellini M.D. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria. Clin Genet 71 (2007) 84-88
    • (2007) Clin Genet , vol.71 , pp. 84-88
    • Pierro, E.D.1    Brancaleoni, V.2    Moriondo, V.3    Besana, V.4    Cappellini, M.D.5
  • 5
    • 0033560096 scopus 로고    scopus 로고
    • Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
    • Gouya L., Puy H., Lamoril J., Da Silva V., Grandchamp B., Nordmann Y., et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 93 (1999) 2105-2110
    • (1999) Blood , vol.93 , pp. 2105-2110
    • Gouya, L.1    Puy, H.2    Lamoril, J.3    Da Silva, V.4    Grandchamp, B.5    Nordmann, Y.6
  • 6
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • Gouya L., Martin-Schmitt C., and Robreau A.M. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78 (2006) 2-14
    • (2006) Am J Hum Genet , vol.78 , pp. 2-14
    • Gouya, L.1    Martin-Schmitt, C.2    Robreau, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.