Novel point mutation in the uroporphyrin
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Takamura, Noboru; Hombrados, Isabelle; Tanigawa, Ken; Namba, Hiroyuki; Nagayama,
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Article
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1997
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John Wiley and Sons
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English
β 168 KB
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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