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- W2061883274 abstract "Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain reaction-single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85, which lies in the putative presequence for targeting to mitochondria. This mutation changes the codon for glutamine to a termination codon at amino acid position 29. MaeI restriction analysis showed two other carriers in the family. The C-T mutation is located within a recently proposed putative alternative translation initiation codon (TIC-1), supporting that TIC-1 is the real TIC rather than TIC-2. Am. J. Med. Genet. 80:204–206, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W2061883274 date "1998-11-16" @default.
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- W2061883274 title "Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family" @default.
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- W2061883274 doi "https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<204::aid-ajmg4>3.0.co;2-g" @default.
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