Novel Ferrochelatase Mutations in Japanese Patients with Erythropoietic Protoporphyria: High Frequency of the Splice Site Modulator IVS3–48C Polymorphism in the Japanese Population
| Autor: | Yoshihiko Mitsuhashi, Aoi Nakano, Katsumi Hanada, Akira Kawada, Ryuta Moritsugu, Hitoshi Takeda, Ken Harada, Hajime Nakano, Yuka Toyomaki, Shigeki Ohashi |
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| Rok vydání: | 2006 |
| Předmět: |
Protoporphyria
Erythropoietic Population DNA Recombinant Dermatology Biochemistry chemistry.chemical_compound Cytosine Asian People Genotype medicine Humans education Molecular Biology Genetics education.field_of_study Polymorphism Genetic biology Intron Cell Biology Japanese population Ferrochelatase medicine.disease Introns Pedigree chemistry RNA splicing Mutation biology.protein Protoporphyrin Erythropoietic protoporphyria Thymine |
| Zdroj: | Journal of Investigative Dermatology. 126(12):2717-2719 |
| ISSN: | 0022-202X |
| DOI: | 10.1038/sj.jid.5700456 |
| Databáze: | OpenAIRE |
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