These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
118 related articles for article (PubMed ID: 1783383)
21. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review. Long ZB; Wang YW; Yang C; Liu G; Du YL; Nie GJ; Chang YZ; Han B J Zhejiang Univ Sci B; 2016 Oct.; 17(10):813-820. PubMed ID: 27704751 [TBL] [Abstract][Full Text] [Related]
22. Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Nakahashi Y; Miyazaki H; Kadota Y; Naitoh Y; Inoue K; Yamamoto M; Hayashi N; Taketani S Hum Genet; 1993 May; 91(4):303-6. PubMed ID: 8500787 [TBL] [Abstract][Full Text] [Related]
23. A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria. Di Pierro E; Cappellini MD; Mazzucchelli R; Moriondo V; Mologni D; Zanone Poma B; Riva A Exp Hematol; 2005 May; 33(5):584-91. PubMed ID: 15850836 [TBL] [Abstract][Full Text] [Related]
24. Loss of hereditary uterine protoporphyria through chromosomal rearrangement in mutant Rhode Island red hens. Schwartz S; Raux WA; Schacter BA; Stephenson BD; Shoffner RN Int J Biochem; 1980; 12(5-6):935-40. PubMed ID: 7450152 [No Abstract] [Full Text] [Related]
25. Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing. Schneider-Yin X; Schäfer BW; Tönz O; Minder EI Hum Genet; 1995 Apr; 95(4):391-6. PubMed ID: 7705834 [TBL] [Abstract][Full Text] [Related]
27. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene. Wang X; Yang L; Kurtz L; Lichtin A; DeLeo VA; Bloomer J; Poh-Fitzpatrick MB J Invest Dermatol; 1999 Jul; 113(1):87-92. PubMed ID: 10417624 [TBL] [Abstract][Full Text] [Related]
28. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245 [TBL] [Abstract][Full Text] [Related]
29. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria. Onaga Y; Ido A; Uto H; Hasuike S; Kusumoto K; Moriuchi A; Numata M; Nagata K; Hori T; Hayashi K; Tsubouchi H Biochem Biophys Res Commun; 2004 Sep; 321(4):851-8. PubMed ID: 15358105 [TBL] [Abstract][Full Text] [Related]
30. [Decreased heme synthetase activity in erythroblasts in two patients with erythropoietic protoporphyria (author's transl)]. Kaneko K; Sanada M; Imaizumi S; Koike T; Miyashita M; Shibata A Rinsho Ketsueki; 1981 Dec; 22(12):2023-33. PubMed ID: 7345186 [No Abstract] [Full Text] [Related]
31. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. Mizawa M; Makino T; Nakano H; Sawamura D; Shimizu T Br J Dermatol; 2016 Jan; 174(1):172-5. PubMed ID: 26280465 [TBL] [Abstract][Full Text] [Related]
33. A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. Li C; Di Pierro E; Brancaleoni V; Cappellini MD; Steensma DP Clin Chem Lab Med; 2009; 47(1):44-6. PubMed ID: 19055472 [TBL] [Abstract][Full Text] [Related]
35. Assignment of the myelin basic protein gene to human chromosome 18q22-qter. Sparkes RS; Mohandas T; Heinzmann C; Roth HJ; Klisak I; Campagnoni AT Hum Genet; 1987 Feb; 75(2):147-50. PubMed ID: 2434411 [TBL] [Abstract][Full Text] [Related]
36. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. Nakahashi Y; Taketani S; Okuda M; Inoue K; Tokunaga R Biochem Biophys Res Commun; 1990 Dec; 173(2):748-55. PubMed ID: 2260980 [TBL] [Abstract][Full Text] [Related]
37. Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. Poh-Fitzpatrick MB; Wang X; Anderson KE; Bloomer JR; Bolwell B; Lichtin AE J Am Acad Dermatol; 2002 Jun; 46(6):861-6. PubMed ID: 12063482 [TBL] [Abstract][Full Text] [Related]
38. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. Herrero C; To-Figueras J; Badenas C; Méndez M; Serrano P; Enríquez-Salamanca R; Lecha M Arch Dermatol; 2007 Sep; 143(9):1125-9. PubMed ID: 17875872 [TBL] [Abstract][Full Text] [Related]
39. Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity. Bloomer JR; Morton KO; Reuter RJ; Ruth GR Am J Hum Genet; 1982 Mar; 34(2):322-30. PubMed ID: 7072720 [TBL] [Abstract][Full Text] [Related]
40. Erythropoietic protoporphyria: spectrum of three cases. Bertrand J; Clarke JT; Hanna D J Cutan Med Surg; 2012; 16(5):311-6. PubMed ID: 22971305 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]