THE PRIMARY ENZYME DEFECT IN HEREDITARY COPROPORPHYRIA
โ Scribed by Elder, G.H; Evans, J.O; Thomas, N; Cox, R; Brodie, M.J; Moore, M.R; Goldberg, A; Nicholson, D.C
- Book ID
- 122945185
- Publisher
- The Lancet
- Year
- 1976
- Tongue
- English
- Weight
- 403 KB
- Volume
- 308
- Category
- Article
- ISSN
- 0140-6736
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๐ SIMILAR VOLUMES
## Communicated by Peter Byers Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (CPO). Clinical manifestations of the disease are characterized by acute attacks of neurological dysfunctio
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase chain