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• W2080686231 abstract "The molecular defect of uroporphyrinogen decarboxylase (UROD) was examined in a patient with mild hepatoerythropoietic porphyria. To elucidate the UROD defect, we cloned UROD cDNAs from EBV-transformed lymphoblastoid cells of the proband using reverse transcriptase-polymerase chain reaction. Nucleotide sequence analysis of the cloned UROD cDNAs revealed two separate missense mutations, each occurring in a separate allele. One mutation was a Val134-->Gln transition, and was due to three sequential point mutations (T417G418T419-->CCA); the other mutation was a His220-->Pro transition (A677-->C). UROD phenotype studies demonstrated that the TGT-->CCA mutation was inherited from the father, and the A-->C mutation was inherited from the mother. In contrast to the null activity previously described for a mutant UROD from a patient with familial porphyria cutanea tarda, these mutant URODs had subnormal but substantial enzyme activities, when expressed in Chinese hamster ovary cells. This is the first demonstration of a mutation caused by three sequential base substitutions." @default.
• W2080686231 created "2016-06-24" @default.
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• W2080686231 date "1994-05-01" @default.
• W2080686231 modified "2023-10-03" @default.
• W2080686231 title "Molecular Defects of Uroporphyrinogen Decarboxylase in a Patient with Mild Hepatoerythropoietic Porphyria" @default.
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• W2080686231 doi "https://doi.org/10.1111/1523-1747.ep12374134" @default.
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