Article
Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria.
Biochemical and biophysical research communications - 15 Oct 1990
Ishida N, Fujita H, Noguchi T, Doss M, Kappas A, Sassa S
Abstract excerpt
The molecular basis of the enzymatic defect responsible for acute hepatic porphyria due to delta-aminolevulinate dehydratase (ALAD) deficiency was investigated in a family including a proband with the acute disease. In order to delineate the mutation in the proband, cDNA for deficient ALAD was synthesized from the proband's cells. The ALAD phenotype was studied by message amplification phenotyping with total RNA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.