The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria

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Veröffentlicht in:International journal of hematology 2010-12, Vol.92 (5), p.769-771
Hauptverfasser: Tahara, Tsuyoshi, Yamamoto, Masayoshi, Akagi, Reiko, Harigae, Hideo, Taketani, Shigeru
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container_title International journal of hematology
container_volume 92
creator Tahara, Tsuyoshi
Yamamoto, Masayoshi
Akagi, Reiko
Harigae, Hideo
Taketani, Shigeru
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doi_str_mv 10.1007/s12185-010-0725-3
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source MEDLINE; Springer Nature - Complete Springer Journals
subjects Alleles
Asian Continental Ancestry Group
Biological and medical sciences
Ferrochelatase - genetics
Ferrochelatase - metabolism
Gene Expression Regulation, Enzymologic
Genetic Association Studies
Hematologic and hematopoietic diseases
Hematology
Humans
Letter to the Editor
Medical sciences
Medicine
Medicine & Public Health
Metabolic diseases
Mutation
Oncology
Other metabolic disorders
Pigments (porphyrias, hyperbilirubinemias...)
Protoporphyria, Erythropoietic - enzymology
Protoporphyria, Erythropoietic - genetics
title The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria
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