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The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7644" target="_blank" >RIV/00216208:11110/10:7644 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064165:_____/10:7644

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria

  • Original language description

    The study demonstrates by various methods that mutation c.903+469T>C activates a pseudoexon in the MTRR gene by increasing the affinity of an exon splicing enhancer for the SF2/ASF splicing factor.

  • Czech name

  • Czech description

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

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2010

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Human Mutation

  • ISSN

    1059-7794

  • e-ISSN

  • Volume of the periodical

    31

  • Issue of the periodical within the volume

    4

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    8

  • Pages from-to

  • UT code for WoS article

    000276810600008

  • EID of the result in the Scopus database