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Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10
(2011)
Multiple endocrine neoplasia type 2 is
characterized by germline mutations in RET. For exon
10, comprehensive molecular and corresponding phenotypic
data are scarce. The International RET Exon 10
Consortium, comprising ...
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 ...
Identificación de mutaciones en el exón 14 del gen F8 de presuntas portadoras de hemofilia A en tres ciudades del Ecuador, 2015.
(PUCE, 2016)
Introducción: La hemofilia A es uno de los trastornos hemorrágicos más comunes a nivel mundial. Aunque esta enfermedad está presente en el Ecuador, no se cuenta con datos estadísticos ni moleculares de posibles portadoras ...
Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children
(Elsevier, 2013-12)
Objective
To investigate the possible association of circulating components of GH-IGFs-IGFBPs system with the GHR-exon 3 genotype in normal and idiopathic short stature (ISS) children.
Design
Descriptive, cross-sectional ...
No mutations found in the exon 2 of p16 INK4a and K-ras
(Elsevier B.V., 2009-07-01)
Report of a chimeric origin of transposable elements in a bovine-coding gene
(2008-04-22)
Despite the wide distribution of transposable elements (TEs) in mammalian genomes, part of their evolutionary significance remains to be discovered. Today there is a substantial amount of evidence showing that TEs are ...
Report of a chimeric origin of transposable elements in a bovine-coding gene
(2008-04-22)
Despite the wide distribution of transposable elements (TEs) in mammalian genomes, part of their evolutionary significance remains to be discovered. Today there is a substantial amount of evidence showing that TEs are ...