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New mutations in the GLA gene in Brazilian families with Fabry disease
(NATURE PUBLISHING GROUPNEW YORK, 2012-06)
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the ...
XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Prevalence of C282Y and H63D mutations in the HFE gene in patients from São Paulo and Southern Brazil
(2016-01-01)
Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene; it is characterized by the risk of iron overload. C282Y and H63D are the most associated mutations in HH. This study ...
Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism
(Associação Brasileira de Divulgação Científica, 2003)
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome
(BIO SCIENTIFICA LTD, 2009)
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 ...
Variable phenotypic manifestations of a K44N mutation in the TGIF gene
(ELSEVIER SCIENCE BV, 2008)
The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and ...