يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Mantuano E."', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2

    المؤلفون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, MG, Verriello, L, Wood, N, Frontali, M., IODICE, CARLA

    المساهمون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M, Verriello, L, Wood, N, Iodice, C, Frontali, M

    مصطلحات موضوعية: Adolescent, Male, Cerebellar Ataxia, Middle Aged, Mutation, Polymorphism, Single-Stranded Conformational, Female, Human, Sequence Homology, Amino Acid, Calcium Channels, N-Type, Aged, Molecular Sequence Data, Adult, Amino Acid Sequence, DNA Mutational Analysis, Settore BIO/18 - GENETICA

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000221780600026; volume:41; issue:6; firstpage:e82; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2108/31166Test

    الإتاحة: https://doi.org/10.1136/jmg.2003.015396Test
    http://hdl.handle.net/2108/31166Test

    View record in BASE

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Complete loss of P/Q calcium channel activity caused by CACNA1A missense mutation carried by episodic ataxia type 2 patients.

    المؤلفون: GUIDA S, PAGNUTTI S, MANTUANO E, TOTTENE A, VENEZIANO L, FELLIN T, STAUDERMAN K. A, WILLIAMS M. E, VOLSEN S, OPHOFF R. A, FRANTS R. R, JODICE C, FRONTALI M. AND PIETROBON D., TRETTEL, Flavia, SPADARO, Maria

    المساهمون: Guida, S, Trettel, Flavia, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, Maria, STAUDERMAN K., A, WILLIAMS M., E, Volsen, S, OPHOFF R., A, FRANTS R., R, Jodice, C, Frontali, M. AND PIETROBON D.

    مصطلحات موضوعية: FAMILIAL HEMIPLEGIC MIGRAINE, CEREBELLAR-ATAXIA, MOLECULAR DETERMINANTS, CHROMOSOME 19P, GENE MUTATION, BLOCK, INACTIVATION, POLYMORPHISM, SUBUNIT, SCA6

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11179022; info:eu-repo/semantics/altIdentifier/wos/WOS:000166994200019; volume:68; firstpage:759; lastpage:764; numberofpages:6; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/142039Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035089729; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000166994200019&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274487/?tool=pubmedTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-0035089729&partnerID=65&md5=cb12970a80dfc7f1aa939c4eb2298145Test

    الإتاحة: https://doi.org/10.1086/318804Test
    http://hdl.handle.net/11573/142039Test
    http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000166994200019&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274487/?tool=pubmedTest
    http://www.scopus.com/inward/record.url?eid=2-s2.0-0035089729&partnerID=65&md5=cb12970a80dfc7f1aa939c4eb2298145Test

    View record in BASE

    أضف إلى المفضلة
  3. 3
    Complete loss of P/Q calcium channel activity caused by CACNA1A missense mutation carried by episodic ataxia type 2 patients

    المؤلفون: Guida, S, Trettel, Flavia, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, Maria, Stauderman, K. A., Williams, M. E., Volsen, S, Ophoff, R. A., Frants, R. R., Jodice, C, Frontali, M. AND PIETROBON D.

    مصطلحات موضوعية: FAMILIAL HEMIPLEGIC MIGRAINE, CEREBELLAR-ATAXIA, MOLECULAR DETERMINANTS, CHROMOSOME 19P, GENE MUTATION, BLOCK, INACTIVATION, POLYMORPHISM, SUBUNIT, SCA6, FAMILIAL HEMIPLEGIC MIGRAINE, GENE MUTATION, SUBUNIT, SCA6, BLOCK, INACTIVATION, CHROMOSOME 19P, CEREBELLAR-ATAXIA, MOLECULAR DETERMINANTS, POLYMORPHISM

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3686::9a59387e824affb0e32abe089242eba6Test
    http://hdl.handle.net/11573/142039Test


    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1)

    المؤلفون: Zanola, Annalisa, Parolini, Ornella

    المساهمون: Wengler, G. S, Giliani, S, Fiorini, M, Mella, P, Mantuano, E, Zanola, Annalisa, Pollonini, G, Eibl, M. M, Ugazio, A. G, Notarangelo, L. D, Parolini, Ornella

    مصطلحات موضوعية: DNA Mutational Analysi, Exon, Female, Frameshift Mutation, Genetic Testing, Human, Male, Pedigree, Point Mutation, Polymerase Chain Reaction, Prenatal Diagnosi, Receptors, Interleukin, Severe Combined Immunodeficiency, Mutation, Polymorphism, Single-Stranded Conformational, Settore BIO/13 - BIOLOGIA APPLICATA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/9633906; info:eu-repo/semantics/altIdentifier/wos/WOS:000074236100030; volume:101; issue:3; firstpage:586; lastpage:591; numberofpages:6; issueyear:1998; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/10807/92504Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-7144261736

    الإتاحة: https://doi.org/10.1046/j.1365-2141.1998.00721.xTest
    http://hdl.handle.net/10807/92504Test

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث