Article
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Annals of human genetics - 1 May 2015
Gonzaga Ana Denise Gomes, de Amorim Lidia Maria da Fonte, Fonseca Ana Beatriz Monteiro, Nogueira Tatiana Lucia Santos, Pereira Olga Maria Diniz, Nagai Maria Aparecida, de Oliveira Barretto Orlando Cesar, Ribeiro Georgina Severo
Abstract excerpt
Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS). In the present study, we sought to establish a correlation between HMBS activity with the presence of mutations and polymorphisms. Enzyme activity was measured in red blood cells of four Brazilian unrelated AIP families (n = 124) and in blood donors (n = 80). The HMBS mutations in...
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