Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

@article{Akagi2000NovelMD,
  title={Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.},
  author={Reiko Akagi and Ryo Shimizu and Kazumichi Furuyama and Manfred O. Doss and Shigeru Sassa},
  journal={Hepatology},
  year={2000},
  volume={31 3},
  pages={704-8}
}
Cloning and expression of the defective gene for delta-aminolevulinate dehydratase (ALAD) from the second of 2 German patients with ALAD deficiency porphyria (ADP), who had been originally reported by Doss et al. in 1979, were performed. Cloning of cDNAs for the defective ALAD were performed using Epstein-Barr virus (EBV)-transformed lymphoblastoid cells of the proband, and nucleotide sequences of cloned cDNA were determined. Two separate mutations of ALAD cDNA were identified in each ALAD… CONTINUE READING