Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria
- 1 June 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 62 (6) , 1341-1352
- https://doi.org/10.1086/301870
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyriaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996
- Systematic screening for RNA with skipped exons - splicing mutations of the ferrochelatase geneBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
- A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyriaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1994
- Deletion of the ferrochelatase gene in a patient with protoporphyriaHuman Molecular Genetics, 1994
- Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic ProtoporphyriaJournal of Investigative Dermatology, 1994
- 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
- Ferrochelatase Structural Mutant (Fechm1Pas) in the House MouseGenomics, 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
- 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