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11. Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria. Kang TW; Oh SW; Kim MR; Lee JS; Kim SC J Eur Acad Dermatol Venereol; 2009 Apr; 23(4):470-1. PubMed ID: 18647208 [No Abstract] [Full Text] [Related]
12. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. Tanigawa K; Bensidhoum M; Takamura N; Namba H; Yamashita S; de Verneuil H; Ged C Hum Genet; 1996 May; 97(5):557-60. PubMed ID: 8655129 [TBL] [Abstract][Full Text] [Related]