A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria
- 21 October 1994
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1227 (1-2) , 25-27
- https://doi.org/10.1016/0925-4439(94)90101-5
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
- Childhood-onset familial porphyria cutanea tarda: Effects of therapeutic phlebotomyJournal of the American Academy of Dermatology, 1992
- Structure of the human ferrochelatase geneEuropean Journal of Biochemistry, 1992
- Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase geneBiochemical and Biophysical Research Communications, 1991
- Effect of 5' splice site mutations on splicing of the preceding intron.Molecular and Cellular Biology, 1990
- Molecular cloning and sequence analysis of cDNA encoding human ferrochelataseBiochemical and Biophysical Research Communications, 1990
- Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan familiesGenomics, 1990
- Genetic aspects of erythropoietic protoporphyriaAnnals of Human Genetics, 1984
- 1st die protoporphyrinämische Lichtdermatose eine klinische und genetische Einheit?Dermatology, 1966