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