Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

Akagi, Reiko

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. [electronic resource] - British journal of haematology Jan 2006 - 237-43 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

0007-1048

10.1111/j.1365-2141.2005.05852.x doi


Adult
Coproporphyria, Hereditary--diagnosis
Coproporphyrinogen Oxidase--genetics
DNA Mutational Analysis--methods
DNA, Complementary--genetics
Erythrocytes--enzymology
Female
Humans
Male
Models, Molecular
Pedigree
Porphobilinogen Synthase--deficiency