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Phylogenetic evidence based on Trypanosoma cruzi nuclear gene sequences and information entropy suggest that inter-strain intragenic recombination is a basic mechanism underlying the allele diversity of hybrid strains
(Elsevier B.V., 2012-07-01)
The diversity of Trypanosoma cruzi is categorized into six discrete typing units (DTUs) T. cruzi I to VI. Several studies indicate that T. cruzi I and II are ancestors of T. cruzi which are considered products of independent ...
ABCG-like transporter of Trypanosoma cruzi involved in benznidazole resistance: Gene polymorphisms disclose inter-strain intragenic recombination in hybrid isolates
(Elsevier B.V., 2015-04-01)
Benznidazole (BZ) is one of the two drugs for Chagas disease treatment. in a previous study we showed that the Trypanosoma cruzi ABCG-like transporter gene, named TcABCG1, is over-expressed in parasite strains naturally ...
Familial concordance and haplotypes distribution of F8 intragenic polymorphisms in severe hemophilia A patients that developed inhibitors to the factor VIII
(WILEY-BLACKWELL PUBLISHING, INC, 2010)
Familial concordance and haplotypes distribution of F8 intragenic polymorphisms in severe hemophilia A patients that developed inhibitors to the factor VIII
(WILEY-BLACKWELL PUBLISHING, INC, 2010)
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
(Wiley, 2017)
Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic ...
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms
(BioScientifica, 2007-10-01)
Thyroglobulin (TG) functions as the matrix for thyroid hormone synthesis. Thirty-five different loss-of-function mutations in the TG gene have been reported. These mutations are transmitted in an autosomal recessive mode. ...
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
LWD is associated to SHOX haploinsufficiency, in most cases, due to gene deletion. Generally FISH and microsatellite analysis are used to identify SHOX deletion. MLPA is a new method of detecting gene copy variation, ...
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
(Wiley Online Library, 2023)
Identificación de deleciones en portadoras de distrofia muscular de Duchenne
Objectives: identification of carrier women in families affected with Duchenne’s and Becker’s Muscular Dystrophy (DMD/DMB) by means of Haplotypes building and the determination of loss of heterocygocity. Introduction: ...
Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
(2011)
Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is a lysosomal storage disease caused by deficiency of arylsulphatase B. The incidence of MPS VI is very low, usually less than 1 case for every 1,000,000 ...