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Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a ...
Costa, Elísio; Vieira, Emília; Martins, Marcia; Saraiva, Jorge; Cancela, Eugénia; Costa, Miguel; Bauerle, Roswitha; Freitas, Teresa; Carvalho, JoãoWe describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler–Najjar syndrome type II, as well as a prenatal diagnosis of Crigler–Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for tw...
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficien...
Granjo, Elisa; Manata, Pedro; Torres, Noémia; Rodrigues, Lurdes; Ferreira, Fátima; Bauerle, Roswitha; Quintanilha, AlexandreThe authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other C...
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