Article
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.
European journal of endocrinology - 1 Feb 2009
Gasparin Maria Regina R, Crispim Felipe, Paula Sílvia L, Freire Maria Beatriz S, Dalbosco Ivaldir S, Manna Thais Della, Salles João Eduardo N, Gasparin Fábio, Guedes Aléxis, Marcantonio João M, Gambini Márcio, Salim Camila P, Moisés Regina S
Abstract excerpt
OBJECTIVE: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However, some studies have provided evidence for genetic heterogeneity and the genotype-phenotype relationships are not clear. Our aim was to ascertain the spectrum of WFS1...
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