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13. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. Aurizi C; Schneider-Yin X; Sorge F; Macrì A; Minder EI; Biolcati G Mol Genet Metab; 2007 Apr; 90(4):402-7. PubMed ID: 17196862 [TBL] [Abstract][Full Text] [Related]
14. A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria. Wang X; Poh-Fitzpatrick M; Piomelli S Biochim Biophys Acta; 1994 Oct; 1227(1-2):25-7. PubMed ID: 7918679 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. Wang X; Poh-Fitzpatrick M; Carriero D; Ostasiewicz L; Chen T; Taketani S; Piomelli S Biochim Biophys Acta; 1993 Apr; 1181(2):198-200. PubMed ID: 8481408 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria. Todd DJ; Hughes AE; Ennis KT; Ward AJ; Burrows D; Nevin NC Hum Mol Genet; 1993 Sep; 2(9):1495-6. PubMed ID: 8242081 [No Abstract] [Full Text] [Related]
18. A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria. Zhou SN; Xiao SX; Peng ZH; Li BX; Li XL; Liu Y; Luo SJ J Dermatol Sci; 2007 Nov; 48(2):145-7. PubMed ID: 17723290 [No Abstract] [Full Text] [Related]
19. Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene. Wang X; Poh-Fitzpatrick M; Chen T; Malavade K; Carriero D; Piomelli S Biochim Biophys Acta; 1995 Jun; 1271(2-3):358-62. PubMed ID: 7541650 [TBL] [Abstract][Full Text] [Related]
20. [Homozygote erythropoietic protoporphyria associated with porokeratosis]. Philippot V; Bérard F; Perrot H Ann Dermatol Venereol; 1996; 123(6-7):382-6. PubMed ID: 8959061 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]