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Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
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| Zeitschriftentitel: | Journal of Human Genetics |
|---|---|
| Personen und Körperschaften: | , , |
| In: | Journal of Human Genetics, 48, 2003, 2, S. 70-76 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Springer Science and Business Media LLC
|
| Schlagwörter: |
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Wiman, Å. Floderus, Y. Harper, P. Wiman, Å. Floderus, Y. Harper, P. |
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Wiman, Å. Floderus, Y. Harper, P. |
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Wiman, Å. Floderus, Y. Harper, P. Journal of Human Genetics Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria Genetics (clinical) Genetics |
| author_sort |
wiman, å. |
| spelling |
Wiman, Å. Floderus, Y. Harper, P. 1434-5161 1435-232X Springer Science and Business Media LLC Genetics (clinical) Genetics http://dx.doi.org/10.1007/s100380300009 Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria Journal of Human Genetics |
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| title |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_unstemmed |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_full |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_fullStr |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_full_unstemmed |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_short |
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_sort |
novel mutations and phenotypic effect of the splice site modulator ivs3-48c in nine swedish families with erythropoietic protoporphyria |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1007/s100380300009 |
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2003 |
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| institution | DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161, DE-Zi4, DE-Gla1, DE-15, DE-Pl11, DE-Rs1, DE-14, DE-105, DE-Ch1, DE-L229 |
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| spelling | Wiman, Å. Floderus, Y. Harper, P. 1434-5161 1435-232X Springer Science and Business Media LLC Genetics (clinical) Genetics http://dx.doi.org/10.1007/s100380300009 Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria Journal of Human Genetics |
| spellingShingle | Wiman, Å., Floderus, Y., Harper, P., Journal of Human Genetics, Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria, Genetics (clinical), Genetics |
| title | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_full | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_fullStr | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_full_unstemmed | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_short | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| title_sort | novel mutations and phenotypic effect of the splice site modulator ivs3-48c in nine swedish families with erythropoietic protoporphyria |
| title_unstemmed | Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1007/s100380300009 |