Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms

@article{RobreauFraolini2000PorphobilinogenDG,
  title={Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms},
  author={A. M. Robreau-Fraolini and H. S. Puy and C. Aquaron and Catherine Bogard and Maminata Traor{\'e} and Yves Nordmann and Robert Raphael Aquaron and Jean Charles Deybach},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={150-159}
}
Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase (PBGD) or hydroxymethylbilane synthase (HMBS) gene. Although AIP has been identified in all the main ethnic groups, little is known about PBGD gene defects in Africans, Afro-Caribbean and Afro-Americans. We have carried out PBGD gene screening among seven unrelated AIP families and 98 controls belonging to the Afro… CONTINUE READING

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