Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
Gu
X F
XF
Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
de Rooij
F
F
de Baar
E
E
Bruyland
M
M
Lissens
W
W
Nordmann
Y
Y
Grandchamp
B
B
D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005796:Genes; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
D018076:DNA, Complementary; D011163:Hydroxymethylbilane Synthase