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: Tjensvoll, Kjersti, Bruland, Ove, Floderus, Ylva, Skadberg, Øyvind, Sandberg, Sverre, Apold, Jaran
Format: Artigo
Sprog:Inglês
Udgivet: IOS Press 2003
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Online adgang: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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