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Estudio molecular de la inversión de los intrones 1 y 22 del factor VIII de la coagulación en niños con hemofilia A severa utilizando técnica de PCR de larga distancia
(Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina, 2017-04-01)
Introducción. La hemofilia A es una enfermedad recesiva ligada al cromosoma X, con una incidencia de 1 en 5 000 a 10 000 varones y es el trastorno hemostático congénito más frecuente en varones. En pacientes con fenotipo ...
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
(ENDOCRINE SOC, 2004-08)
Primary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome, and the familial isolated hyperparathyroidism ...
Zebrafish cnbp Intron1 Plays a Fundamental Role in Controlling Spatiotemporal Gene Expression During Embryonic Development
(WILEY-LISS, DIV JOHN WILEY & SONS INC, 2009-09-02)
Cellular nucleic acid binding protein (CNBP) is a strikingly conserved zinc-finger nucleic acid chaperone required for forebrain development.
Its depletion causes forebrain truncation mainly as a consequence of a reduction ...
An efficient method to find potentially universal population genetic markers, applied to metazoans
(BIOMED CENTRAL LTD, 2010-09-13)
Background: Despite the impressive growth of sequence databases, the limited availability of nuclear markers that
are sufficiently polymorphic for population genetics and phylogeography and applicable across various ...
MarkerMiner 1.0: A New Application for Phylogenetic Marker Development Using Angiosperm Transcriptomes
(Botanical Society of America, 2015)
• Premise of the study: Targeted sequencing using next-generation sequencing (NGS) platforms offers enormous potential for
plant systematics by enabling economical acquisition of multilocus data sets that can resolve diffi ...
Comparative analysis of SSR markers developed in Exon, Intron, and Intergenic regions and distributed in regions controlling fruit quality traits in Prunus species: genetic diversity and association studies
(Springer, 2018)
Simple sequence repeats (SSRs) are genome domains located in both coding and non-coding regions in eukaryotic genomes. Although SSRs are often characterized by low polymorphism, their DNA-flanking sequences could be a ...
Relación de la transición A→G en la posición –21 del intrón 10 del gen NCF-2 con la expresión de la proteína p67-phox
(Universidad de Antioquia, Facultad de MedicinaInmunodeficiencias PrimariasMedellín, Colombia, 2022)
Association of the intronic polymorphism rs891512 (G24943A) of the endothelial nitric oxide synthase gene with hypertension in Chilean type 2 diabetes patients
(2012)
We investigated two single nucleotide polymorphisms of the NOS3 gene in type 2 diabetic patients (n= 93) and healthy non-diabetic controls (n= 76) and their relationship with smoking habits, body mass index, hypertension ...
Allelic polymorphism in the serotonin transporter gene in major depression patients
(Calí : Universidad del Valle, 2011-04-11)
Introduction: Major depression (MD), like other mood disorders, is considered a worldwide endemic pathology, becoming one of the biggest public health problems. The hereditary factors of mood disorders have been studied ...
Allelic polymorphism in the serotonin transporter gene in major depression patients.
(2011-11-10)
Introduction: Major depression (MD), like other mood disorders, is considered a worldwide endemic pathology,
becoming one of the biggest public health problems. The hereditary factors of mood disorders have been studied ...