A molecular, enzymatic and clinical study in a family with hereditary coproporphyria
โ Scribed by U. Gross; H. Puy; U. Meissauer; J. Lamoril; J. C. Deybach; M. Doss; Y. Nordmann; M. O. Doss
- Book ID
- 110350151
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 93 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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๐ SIMILAR VOLUMES
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
A new case of glucose phosphate isomerase deficiency associated with cogenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had n