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Study of Mutation Impact on Lysosomal Proteins using Computational Analysis

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dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorAmaral, Olga
dc.date.accessioned2018-11-16T15:31:15Z
dc.date.available2018-11-16T15:31:15Z
dc.date.issued2010-06
dc.description.abstractReduction in time and cost involved in mutation analyses led to a rapid increase in the number of molecular lesions identified at the major loci involved in several diseases. Laboratories where DNA analyses of patients samples are carried out, are constantly confronted with the need to further investigate the causal nature of the mutations found. In many cases this type of approach may be useful to rapidly confer the genotyping results with a prognosis value. Although the establishment of a genotype/phenotype correlation cannot be fully accomplished through such a simple strategy, the multi-step approach used seems to be useful for predicting the causal potential of new, private or unique mutations, when the 3D structure is available. Thus, in silico analyses combining multiple information seem to be a fast, inexpensive, reliable tool, providing more accurate results, and thus allowing better predictions.pt_PT
dc.description.sponsorshipFundação da Ciência e Tecnologia (FCT) - PIC/IC/82822/2007; PI: OA; grantee: AD. AJD: FCT research grantpt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5655
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectGLApt_PT
dc.subjectGBApt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectGenetic Variantspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenética Humanapt_PT
dc.titleStudy of Mutation Impact on Lysosomal Proteins using Computational Analysispt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F82822%2F2007/PT
oaire.citation.conferencePlaceBoston, Massachusetts, USApt_PT
oaire.citation.titleGENETICS 2010:  Model Organisms to Human Biology Meeting, 12‐15 June, 2010pt_PT
oaire.fundingStream5646-ICCMS
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublicationb8dae1fe-2a52-46cc-9d8c-951a08bfa219
relation.isProjectOfPublication.latestForDiscoveryb8dae1fe-2a52-46cc-9d8c-951a08bfa219

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