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Estudio molecular de la inversión de los intrones 1 y 22 del Factor VIII de la coagulación en un grupo de pacientes pediátricos Colombianos con diagnóstico de Hemofilia A
(2012)
La Hemofilia A es una enfermedad recesiva ligada al cromosoma X, su incidencia es de 1/5000 varones, es el desorden de la hemostasia más común. La inversión del intrón 22 (INV22) se considera la alteración más frecuente, ...
Identical sequence patterns in the ends of exons and introns of human protein-coding genes
(ELSEVIER SCI LTDOXFORD, 2012-02)
Intron splicing is one of the most important steps involved in the maturation process of a pre-mRNA. Although the sequence profiles around the splice sites have been studied extensively, the levels of sequence identity ...
Determinación de las frecuencias alélicas de las variantes polimórficas: intrón 3, intrón 6 y codón 72 del gen supresor de tumores tp53 en dos muestras poblacionales del departamento de Lima- Perú
(Universidad Nacional Mayor de San MarcosPE, 2015)
El gen TP53 codifica una proteína de 53 kDa con importante función reguladora en procesos celulares como la proliferación, muerte celular y preservación del material genético. Polimorfismos de este gen presentan una alta ...
Introns do grupo I no LSU rRNA mitocondrial de Cryptococcus neoformans e Cryptococcus gattii e a sua relação com genótipos e susceptibilidade a antifúngicos
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM BIOQUÍMICA, 2017-03-16)
Cryptococcosis, caused by the fungal species Cryptococcus neoformans or Cryptococcus gattii, is one of the most important systemic and/or opportunistic diseases in the world. Each species has four genotypes, usually accessed ...
How Are Short Exons Flanked by Long Introns Defined and Committed to Splicing?
(Elsevier Science London, 2016-10)
The splice sites (SSs) delimiting an intron are brought together in the earliest step of spliceosome assembly yet it remains obscure how SS pairing occurs, especially when introns are thousands of nucleotides long. Splicing ...
Growth hormone gene polymorphism associated with grow-out performance of Oreochromis niloticus strains
(Elsevier B.V., 2019-03-30)
Introgressive crossbreeding between Red-Stirling and Chitralada Nile tilapia was carried out to assess the association of polymorphisms of short tandem repeats loci located in the growth hormone-I promoter and first intron ...
The presence of the NOS3 gene polymorphism for intron 4 mitigates the beneficial effects of exercise training on ambulatory blood pressure monitoring in adults
(The American Physiological Society, 2015)
The presence of the NOS3 gene polymorphism for intron 4 mitigates the beneficial effects of exercise training on ambulatory blood pressure monitoring in adults
(The American Physiological Society, 2015)