Molecular defects in erythropoietic protoporphyria with terminal liver failure
- 1 June 1994
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 93 (6) , 711-713
- https://doi.org/10.1007/bf00201578
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase geneHuman Molecular Genetics, 1993
- Molecular defect in human erythropoietic protoporphyria with fatal liver failureHuman Genetics, 1993
- A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicingBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
- A molecular defect in human protoporphyria.1992
- Cytofluorometry as a Diagnosis of ProtoporphyriaGastroenterology, 1992
- The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.Proceedings of the National Academy of Sciences, 1992
- Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase geneBiochemical and Biophysical Research Communications, 1991
- Molecular cloning and sequence analysis of cDNA encoding human ferrochelataseBiochemical and Biophysical Research Communications, 1990
- Ferrochelatase activity in human lymphocytes, as quantified by a new high-performance liquid-chromatographic method.Clinical Chemistry, 1988
- Genetic aspects of erythropoietic protoporphyriaAnnals of Human Genetics, 1984