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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Detalles Bibliográficos
Autores principales: Tjensvoll, Kjersti, Bruland, Ove, Floderus, Ylva, Skadberg, Øyvind, Sandberg, Sverre, Apold, Jaran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2003
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851659/
https://www.ncbi.nlm.nih.gov/pubmed/14757946
http://dx.doi.org/10.1155/2003/384971

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