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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

✍ Scribed by T-W Kang; S-W Oh; M-R Kim; JS Lee; S-C Kim


Book ID
111095706
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
558 KB
Volume
23
Category
Article
ISSN
0926-9959

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The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h