Molecular aspects of the inherited porphyrias
Open Access
- 1 February 2000
- journal article
- review article
- Published by Wiley in Journal of Internal Medicine
- Vol. 247 (2), 169-178
- https://doi.org/10.1046/j.1365-2796.2000.00618.x
Abstract
Sassa S, Kappas A (The Rockefeller University, New York, USA). Molecular aspects of the inherited porphyrias (Review). J Intern Med 2000; 247: 169–178. The porphyrias are diseases due to ma...Keywords
This publication has 19 references indexed in Scilit:
- X-ray Structure of 5-Aminolevulinic Acid Dehydratase from Escherichia coli Complexed with the Inhibitor Levulinic Acid at 2.0 Å ResolutionBiochemistry, 1999
- Differential Regulation of Coproporphyrinogen Oxidase Gene Between Erythroid and Nonerythroid CellsBlood, 1998
- Molecular Genetics of Congenital Erythropoietic PorphyriaSeminars in Liver Disease, 1998
- Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyriaJournal of Inherited Metabolic Disease, 1997
- Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent PorphyriaAmerican Journal of Human Genetics, 1997
- Protoporphyrinogen Oxidase: Complete Genomic Sequence and Polymorphisms in the Human GeneBiochemical and Biophysical Research Communications, 1996
- Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyriaNature Genetics, 1996
- The three‐dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyriaProtein Science, 1994
- Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human GeneGenomics, 1993
- Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.Proceedings of the National Academy of Sciences, 1988