Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient
Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uroporphyrinogen III cosynthase (UROS). We studied a Vi...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
S. Karger AG
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635963/ |