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Haplotype Analysis of Norwegian and Swedish Patients with Acute Intermittent Porphyria (AIP): Extreme Haplotype Heterogeneity for the Mutation R116W
Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD). The mutation spectrum in the HMBS gene is characterized by a majority of family specific mutation...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
IOS Press
2003
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3851659/ https://ncbi.nlm.nih.gov/pubmed/14757946 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2003/384971 |
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