يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"cis-segregation"', وقت الاستعلام: 0.40s تنقيح النتائج
  1. 1
    Academic Journal
    Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy

    المؤلفون: Donato Gemmati, Elisabetta D’Aversa, Bianca Antonica, Miriana Grisafi, Francesca Salvatori, Stefano Pizzicotti, Patrizia Pellegatti, Maria Ciccone, Stefano Moratelli, Maria Luisa Serino, Veronica Tisato

    المصدر: Genes, Vol 15, Iss 4, p 432 (2024)

    مصطلحات موضوعية: premature stop-codon (PTC), FV Leiden, cis-segregation, inherited thrombophilia, blood coagulation, readthrough, Genetics, QH426-470

    Relation: https://www.mdpi.com/2073-4425/15/4/432; https://doaj.org/toc/2073-4425; https://doaj.org/article/f69155baae3f498b9348c49543ddf57d

    الاتاحة: https://doi.org/10.3390/genes15040432
    https://doaj.org/article/f69155baae3f498b9348c49543ddf57d

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  2. 2
    Academic Journal
    Cis-segregation of c.1171c>t stop codon (p.r391*) in serpinc1 gene and c.1691g>a transition (p.r506q) in f5 gene and selected gwas multilocus approach in inherited thrombophilia

    المؤلفون: Gemmati D., Longo G., Franchini E., Silva J. A., Gallo I., Lunghi B., Moratelli S., Maestri I., Serino M. L., Tisato V.

    المساهمون: Gemmati, D., Longo, G., Franchini, E., Silva, J. A., Gallo, I., Lunghi, B., Moratelli, S., Maestri, I., Serino, M. L., Tisato, V.

    مصطلحات موضوعية: Cis-segregation, Crossing-over, F5, FV Leiden, GWAS, Inherited thrombophilia, SERPINC1

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/34207366; info:eu-repo/semantics/altIdentifier/wos/WOS:000667059600001; volume:12; issue:6; firstpage:934-1; lastpage:934-14; numberofpages:14; journal:GENES; https://hdl.handle.net/11392/2461130; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108707551; https://www.mdpi.com/2073-4425/12/6/934

    الاتاحة: https://hdl.handle.net/11392/2461130
    https://doi.org/10.3390/genes12060934
    https://www.mdpi.com/2073-4425/12/6/934

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  3. 3
    Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia

    المؤلفون: Giovanna Longo, Eugenia Franchini, Iva Maestri, S. Moratelli, Maria Luisa Serino, Donato Gemmati, Barbara Lunghi, Juliana Araujo Silva, Veronica Tisato, Ines Gallo

    المصدر: Genes
    Genes, Vol 12, Iss 934, p 934 (2021)

    مصطلحات موضوعية: 0301 basic medicine, FV Leiden, SERPINC1, Nonsense mutation, Genome-wide association study, F5, QH426-470, 030204 cardiovascular system & hematology, Cis-segregation, Crossing-over, GWAS, Inherited thrombophilia, Article, NO, cis-segregation, 03 medical and health sciences, Exon, 0302 clinical medicine, SERPINC1 Gene, crossing-over, Genetics, Genetic predisposition, Medicine, Missense mutation, LS7_2, LS2_6, Gene, Genetics (clinical), LS2_9, business.industry, inherited thrombophilia, Stop codon, 030104 developmental biology, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d5b5df0e5588f959b755147926bc7f
    http://europepmc.org/articles/PMC8234447

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