A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing
- 30 April 1993
- journal article
- case report
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1181 (2), 198-200
- https://doi.org/10.1016/0925-4439(93)90112-e
Abstract
No abstract availableKeywords
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- Zinc chelatase in human lymphocytes: Detection of the enzymatic defect in erythropoietic protoporphyriaAnalytical Biochemistry, 1988
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