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Mostrando ítems 11-20 de 118
Eighteen years of molecular genotyping the hemophilia inversion hotspot: From southern blot to inverse shifting-PCR
(Molecular Diversity Preservation International, 2011-10)
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause ...
Phylogeny of the tribe Colletieae (Rhamnaceae) - A sensitivity analysis of the plastid region trnL-trnF combined with morphology
(Springer Wien, 2005-02)
The phylogenetic relationships within the tribe Colletieae (Rhamnaceae) were examined combining data from a previous morphological analysis with data from the trnL intron and trnL-F spacer. Previous studies have failed to ...
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR
(Molecular Diversity Preservation International, 2011-10)
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause ...
Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene
(Mary Ann Liebert, 2002-09)
The purpose of the present work was to characterize two new polymorphic microsatellite markers in the thyroglobulin gene. TGrI29 and TGrI30 repeats are located within introns 29 and 30, respectively. Genetic studies were ...
A haplotype at intron 8 of PTPRT gene is associated with resistance to Brucella infection in Argentinian creole goats
(Elsevier Science, 2017-08)
Brucellosis is the leading zoonosis on a worldwide scale and constitutes a major public health threat in many regions of the world. Several molecular markers associated with natural resistance to intracellular bacterial ...
CAPN1 markers in three Argentinean cattle breeds: Report of a new InDel polymorphism within intron 17
(Springer, 2011-03)
In this study, the genotype distribution and allelic frequencies of CAPN1 (Calcium activated neutral protease) single nucleotide polymorphisms (SNPs) were analyzed taking advantage of the different genetic backgrounds ...
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
(Elsevier Science, 2016-06)
Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis ...
Phylogenetic relationships in Bulbostylis (Abildgaardieae: Cyperaceae) inferred from nuclear and plastid DNA sequence data
(Taylor & Francis, 2018-07)
Previous molecular phylogenetic analyses of the family Cyperaceae based on rbcL sequences showed Bulbostylis as paraphyletic, with B. atrosanguinea and B. hispidula forming a clade with Nemum spadiceum. On the contrary, ...
Diversity of mobile genetic elements in the mitogenome of closely related Fusarium culmorum and F. graminearum sensu stricto strains ans its implication for diagnostic purposes
(Frontiers, 2020-04)
Much of the mitogenome variation observed in fungal lineages seems driven by mobile genetic elements (MGEs), which have invaded their genomes throughout evolution. The variation in the distribution and nucleotide diversity ...