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P01-026 – A case of FMF and hereditary coproporphyria

✍ Scribed by A Ganesha,S Savic

Book ID
126376579
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
100 KB
Volume
11
Category
Article
ISSN
1546-0096

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Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family
✍ Susa, Shinji; Daimon, Makoto; Kondo, Hiroshi; Kondo, Masao; Yamatani, Keiichi; S 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 2 views

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