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NR8116

Molecular diagnosis of Bartter and Gitelman syndrome

Public support

  • Provider

    Ministry of Health

  • Programme

    Branch programm of research of the Ministry of Health

  • Call for proposals

    VaV pro Ministerstvo zdravotnictví 1 (SMZ02004NR)

  • Main participants

  • Contest type

    VS - Public tender

  • Contract ID

Alternative language

  • Project name in Czech

    Molekulární diagnostika Bartterova a Gitelmanova syndromu

  • Annotation in Czech

    Cílem projektu je určit frekvence výskytu Bartterova a Gitelmanova syndromu, jejich genových mutací v ČR a jejich včasná diagnostika, případně přispět k pochopení patogeneze monogenní formy arteriální hypertenze.

Scientific branches

  • R&D category

    NV - Nonindustrial research (Applied research excluded Industrial research)

  • CEP classification - main branch

    EB - Genetics and molecular biology

  • CEP - secondary branch

  • CEP - another secondary branch

  • OECD FORD - equivalent branches <br>(according to the <a href="http://www.vyzkum.cz/storage/att/E6EF7938F0E854BAE520AC119FB22E8D/Prevodnik_oboru_Frascati.pdf">converter</a>)

    10603 - Genetics and heredity (medical genetics to be 3)<br>10604 - Reproductive biology (medical aspects to be 3)<br>10605 - Developmental biology<br>10608 - Biochemistry and molecular biology<br>10609 - Biochemical research methods<br>30101 - Human genetics

Completed project evaluation

  • Provider evaluation

    V - Vynikající výsledky projektu (s mezinárodním významem atd.)

  • Project results evaluation

    The molecular genetic analysis of Bartter's and Gilteman's syndrome was established in patients with suspicion for these deseases. 3 novel mutations on CLCNKB (candidate gene for Bartter's syndrome) and 4 novel mutations on SLC12A3 gene (Gilteman's s.).

Solution timeline

  • Realization period - beginning

    Jan 1, 2004

  • Realization period - end

    Jan 1, 2006

  • Project status

    U - Finished project

  • Latest support payment

Data delivery to CEP

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

  • Data delivery code

    CEP07-MZ0-NR-U/06:2

  • Data delivery date

    Aug 8, 2007

Finance

  • Total approved costs

    2,564 thou. CZK

  • Public financial support

    2,556 thou. CZK

  • Other public sources

    0 thou. CZK

  • Non public and foreign sources

    0 thou. CZK