Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Laboratoire de Biochimie, Hôpital Louis Mourier, Colombes.
Y
Y
Nordmann
J C
JC
Deybach
H
H
de Verneuil
S
S
Boulechfar
B
B
Grandchamp
D000293:Adolescent; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D010787:Photosensitivity Disorders / Q000151:congenital / Q000201:enzymology / Q000235:genetics; D011164:Porphyrias / Q000151:congenital / Q000201:enzymology / Q000235:genetics*; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
D004247:DNA; D014576:Uroporphyrinogen III Synthetase