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Volumn 117, Issue 6, 2001, Pages 1647-1649

Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells

Author keywords

Deletion; Erythropoietic protoporphyria; FECH; Ferrochelatase; Myelodysplasia

Indexed keywords

FERROCHELATASE; UROPORPHYRINOGEN III SYNTHASE;

EID: 0035675628     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202x.2001.01560.x     Document Type: Article
Times cited : (38)

References (23)
  • 1
    • 0034670043 scopus 로고    scopus 로고
    • Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria
    • (2000) Blood , vol.96 , pp. 3618-3623
    • Akagi, R.1    Nishitani, C.2    Harigae, H.3
  • 10
  • 22
    • 0033361412 scopus 로고    scopus 로고
    • Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
    • (1999) Am J Hum Genet , vol.65 , pp. 984-994
    • Whatley, S.D.1    Puy, H.2    Morgan, R.R.3
  • 23
    • 0026666091 scopus 로고
    • Pyridoxal 5-phosphate therapy in a patient with myelodysplastic syndrome and adult onset congenital erythropoietic porphyria
    • (1992) Br J Haematol , vol.81 , pp. 614-621
    • Yamauchi, K.1    Kushibi, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.