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Deficiency of mitochondrial ATP synthase of nuclear genetic origin

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F06%3A00049061" target="_blank" >RIV/67985823:_____/06:00049061 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/06:00005333 RIV/00064165:_____/06:00000796 RIV/00216208:11110/06:00008424 RIV/00064165:_____/06:00001333

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Deficiency of mitochondrial ATP synthase of nuclear genetic origin

  • Original language description

    Characterization of ATP synthase deficienty of nuclear genetic origin in 14 patients reveled substantially different phenotype in comparison with isolated defects caused by mutations in mtDNA ATP gene

  • Czech name

    Klinické a biochemické projevy izolovaných defektů ATP syntázy jaderného původu

  • Czech description

    Studium souboru 14 pacientů ukázalo, že defekty mitochondriální ATP syntázy na podkladě mutací v jaderném geonomu mají zásadně odlišný patologický fenotyp ve srovnání s defekty funkce enzymu na podkladě mutací v ATP6 genu, kódovaném mitochondriální DNA

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2006

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Neuromuscular Disorders

  • ISSN

    0960-8966

  • e-ISSN

  • Volume of the periodical

    16

  • Issue of the periodical within the volume

    11

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    9

  • Pages from-to

    821-829

  • UT code for WoS article

  • EID of the result in the Scopus database