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Experimental evaluation of SDL and One-Op mutation for C
(IEEE Computer SocietyCleveland, Ohio, 2014-03-31)
Mutation analysis modifies a program by applying
syntactic rules, called mutation operators, systematically to create
many versions of the program (mutants) that differ in small
ways. Testers then design tests to cause ...
Designing deletion mutation operators
(IEEE Computer SocietyCleveland, Ohio, 2014-03-31)
Mutation analysis modifies a program by applying
syntactic rules, called mutation operators, systematically to create
many versions of the program (mutants) that differ in small
ways. Testers then design tests to cause ...
A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America
(2013)
Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with storage oflipofuscin-like lipopigments in cerebral neurons and peripheraltissues. Mutations in CLN8 gene causing epilepsy ...
Kin-Driver: a Database of Driver Mutations in Protein Kinases
(Oxford University Press, 2014)
Somatic mutations in protein kinases (PKs) are frequent driver events in many human tumors, while germ-line mutations are associated with hereditary diseases. Here we present Kin-driver, the first database that compiles ...
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis
(Elsevier Ireland, 2021-02)
Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date, two hundred twenty-seven variations of the TG gene have been identified in humans. Thyroid dyshormonogenesis due to TG gene mutations ...
Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack
(Springer, 2019)
Hereditary Hearing Loss (HHL) is a common trait affecting 1 in 2000 new born children. The presence of over 100 different genes involved in HHL, lead us to go on board with Whole Exome Sequencing (WES) in order to search ...
Alterações genéticas de cistos e tumores odontogênicos
(Universidade Federal de Minas GeraisBrasilICB - DEPARTAMENTO DE PATOLOGIAPrograma de Pós-Graduação em PatologiaUFMG, 2019-12-10)
Odontogenic tumors and delevopmental cysts are rare and most of them show uncertain pathogenesis. The use of next generation sequencing techniques (NGS) help to identify pathogenic driver mutations of different tumors. ...
Mutagraph: modelos e algoritmos para predição na afinidade de complexos proteicos através de Graph Kernel e métricas de redes complexas
(Universidade Federal de Minas GeraisUFMG, 2017-11-07)
Mutations in coding regions can aect the structure and the function of a protein leading to malfunction and still related to hereditary disorders and propensity to several cancers. Missense mutation types, where have the ...
Mutación de expresiones de navegación para testing y reparación
(2018-11)
Evaluar la calidad de un conjunto de tests con respecto a su capacidad de detectar potenciales bugs
representa un área muy importante en la ingeniería de software. Métricas indirectas para la medición
de este potencial ...
Next Generation Sequencing of Pooled Samples Reveals New SNRNP200 Mutations Associated with Retinitis Pigmentosa
(WILEY-BLACKWELL, 2011)
The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre-mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa ...