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Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria

✍ Scribed by Meysam Moghbeli; Mahmood Maleknejad; Azadeh Arabi; Mohammad Reza Abbaszadegan


Book ID
113075972
Publisher
Springer
Year
2012
Tongue
English
Weight
269 KB
Volume
39
Category
Article
ISSN
0301-4851

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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