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Distribution of QPY and RAH haplotypes of granzyme B gene in distinct Brazilian populations
(SOC BRASILEIRA MEDICINA TROPICALBRASILIA, 2012)
Introduction: The cytolysis mediated by granules is one of the most important effector functions of cytotoxic T lymphocytes and natural killer cells. Recently, three single nucleotide polymorphisms (SNPs) were identified ...
X-chromosome data for 12 STRs: Towards an Argentinian database of forensic haplotype frequencies
(Elsevier Ireland, 2019-05-10)
The analysis of X-chromosome STRs is useful in certain kinship cases for which autosomal markers provide insufficient statistical power. Particularly, powerful results are achieved in paternity cases with a daughter, when ...
XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are ...
HLA haplotypes in families with type 1 diabetes Haplotipos HLA en familias chilenas con diabetes tipo 1
(1998)
Background: Inherited susceptibility to type 1 diabetes is partially determined by HLA genes. HLA-DQA1 and DQB1 alleles have been chosen as the most sensitive susceptibility markers. Family studies are a good method to ...
XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
(Sociedad de Biología de Chile, 2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are ...
Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia
(Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2014-10-01)
Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.Method: The frequency of ...
Amerindian mtDNA haplogroups and celiac disease risk HLA haplotypes in mixed-blood Latin American patients
(Lippincott Williams and Wilkins, 2011)
Background and Objective: Risk haplotypes have been described in celiac disease (CD), but the influence of native genes on CD in Hispanic Americans is unknown. The aim of the study was to measure the frequency of Amerindian ...