Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
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概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2003-02-01
著者
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Harper Pauline
Porphyria Centre Sweden C2-71 Department Of Medical Laboratory Sciences And Technology Division Of C
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WIMAN Asa
Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division o
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FLODERUS Ylva
Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division o
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Wiman Asa
Porphyria Centre Sweden C2-71 Department Of Medical Laboratory Sciences And Technology Division Of C
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Floderus Ylva
Porphyria Centre Sweden C2-71 Department Of Medical Laboratory Sciences And Technology Division Of C
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Wimam Asa
Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital
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Floderus Yiva
Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital
関連論文
- Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
- Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria
- A recurrent mutation in variegate porphyria patients from Chile and Sweden : Evidence for a common genetic back-ground?