Article
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.
American journal of medical genetics - 16 Nov 1998
Susa S, Daimon M, Kondo H, Kondo M, Yamatani K, Sasaki H
Abstract excerpt
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 reaction-single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution...
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