Article
Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.
Transactions of the American Clinical and Climatological Association - 1 Jan 2000
Bloomer J R, Poh-Fitzpatrick M B
Abstract excerpt
In summary, FC gene mutations in patients with protoporphyric liver disease typically cause major structural alterations in the FC protein. However, the gene mutations by themselves do not satisfactorily account for the severe phenotype, as the same mutations are found in asymptomatic family members, and similar mutations are found in patients who do not develop liver disease. Thus there may be unidentified...
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