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  1. Article ; Online: Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.

    Martos, Laura / Fernández-Pardo, Álvaro / López-Fernández, María F / Ibáñez, Francisco / Herrero, Sonia / Tàssies, Dolors / González-Porras, José R / Solmoirago, María J / Costa, María J / Reverter, Juan C / Marco, Pascual / Roldán, Vanessa / Lecumberri, Ramón / Velasco, Francisco / Oto, Julia / Iruin, Gemma / Alonso, María N / Vayá, Amparo / Bonanad, Santiago /
    Ferrando, Fernando / Martí, Edelmira / Cid, Ana R / Plana, Emma / Oña, Francisca / Cuesta, Isabel / González-López, Tomás J / España, Francisco / Medina, Pilar / Navarro, Silvia

    Thrombosis and haemostasis

    2019  Volume 119, Issue 9, Page(s) 1409–1418

    Abstract: Presently, no data on the molecular basis of hereditary protein C (PC) deficiency in Spain is available. We analyzed the PC gene ( ...

    Abstract Presently, no data on the molecular basis of hereditary protein C (PC) deficiency in Spain is available. We analyzed the PC gene (
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Blood Coagulation/genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; France ; Humans ; Medical History Taking ; Middle Aged ; Mutation/genetics ; Netherlands ; Pedigree ; Protein C/genetics ; Protein C Deficiency/genetics ; Spain ; Venous Thromboembolism/genetics ; Young Adult
    Chemical Substances Protein C
    Language English
    Publishing date 2019-06-29
    Publishing country Germany
    Document type Comparative Study ; Journal Article
    ZDB-ID 518294-3
    ISSN 2567-689X ; 0340-6245
    ISSN (online) 2567-689X
    ISSN 0340-6245
    DOI 10.1055/s-0039-1692440
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.192: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 433: Show issues

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  2. Article: Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency

    Martos, Laura / Fernández-Pardo, Álvaro / López-Fernández, María F. / Ibáñez, Francisco / Herrero, Sonia / Tàssies, Dolors / González-Porras, José R. / Solmoirago, María J. / Costa, María J. / Reverter, Juan C. / Marco, Pascual / Roldán, Vanessa / Lecumberri, Ramón / Velasco, Francisco / Oto, Julia / Iruin, Gemma / Alonso, María N. / Vayá, Amparo / Bonanad, Santiago /
    Ferrando, Fernando / Martí, Edelmira / Cid, Ana R. / Plana, Emma / Oña, Francisca / Cuesta, Isabel / González-López, Tomás J. / España, Francisco / Medina, Pilar / Navarro, Silvia

    Thrombosis and Haemostasis

    2019  Volume 119, Issue 09, Page(s) 1409–1418

    Abstract: Presently, no data on the molecular basis of hereditary protein C (PC) deficiency in Spain is available. We analyzed the PC gene ( PROC ) in 109 patients with symptomatic PC deficiency and in 342 relatives by sequencing the 9 PROC exons and their ... ...

    Abstract Presently, no data on the molecular basis of hereditary protein C (PC) deficiency in Spain is available. We analyzed the PC gene ( PROC ) in 109 patients with symptomatic PC deficiency and in 342 relatives by sequencing the 9 PROC exons and their flanking intron regions. In 93 probands, we found 58 different mutations (26 novel). Thirty-seven consisted of a nucleotide change, mainly missense mutations, 1 was a 6-nucleotide insertion causing the duplication of 2 amino acids, and 4 were deletions of 1, 3, 4, and 16 nucleotides. Nine mutations caused type II deficiencies, with the presence of normal antigen levels but reduced anticoagulant activity. Using a PC level of 70% as lowest normal limit, we found no mutations in 16 probands and 25 relatives with PC levels ≤ 70%. On the contrary, 4 probands and 12 relatives with PC levels > 70% carried the mutation identified in the proband. The spectrum of recurrent mutations in Spain is different from that found in the Netherlands, where the most frequent mutations were p.Gln174* and p.Arg272Cys, and is more similar to that found in France, where the most frequent were p.Arg220Gln and p.Pro210Leu. In our study, p.Val339Met (9 families), p.Tyr166Cys (7), p.Arg220Gln (6), and p.Glu58Lys (5) were the most prevalent. This study confirms the considerable heterogeneity of the genetic abnormality in PC deficiencies, and allowed genetic counseling to those individuals whose PC levels were close to the lower limit of the normal reference range.
    Keywords protein C deficiency ; gene mutations ; venous thromboembolism ; family study
    Language English
    Publishing date 2019-06-29
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 518294-3
    ISSN 2567-689X ; 0340-6245
    ISSN (online) 2567-689X
    ISSN 0340-6245
    DOI 10.1055/s-0039-1692440
    Database Thieme publisher's database

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.192: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 433: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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