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
Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family
โ Scribed by K. R. Allen; S. D. Whatley; T. J. Degg; J. H. Barth
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 280 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0141-8955
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