Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene
- 16 December 1991
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 181 (2) , 594-599
- https://doi.org/10.1016/0006-291x(91)91231-z
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaNucleic Acids Research, 1989
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Genetic aspects of erythropoietic protoporphyriaAnnals of Human Genetics, 1984
- Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.Journal of Clinical Investigation, 1983
- The inherited enzymatic defect in porphyria variegataHuman Genetics, 1981