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Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F05%3A00003586" target="_blank" >RIV/00216208:11150/05:00003586 - isvavai.cz</a>

  • Alternative codes found

    RIV/00023761:_____/05:30

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg

  • Original language description

    Single strand conformation polymorphism method for screening of mutations in the RET proto-oncogene were used. In one Czech family with FMTC, we have identified a novel missense point mutation of the RET proto-oncogene in exon 5. To improve the diagnosisof FMTC, analysis of exon 5 of the RET proto-oncogene should be considered.

  • Czech name

    Exon 5 RET proto-onkogenu: nově objevený rizikový exon pro familiární medulární karcinom štítné žlázy, nová zárodečná mutace Gly321Arg

  • Czech description

    U familiárního medulárního karcinomu štítné žlázy byla pomocí sekvenace DNA identifikována nová nepopsaná mutace proto-onkogenu RET v exonu 5. Exon 5 by měl být zařazen mezi vyšetřované části RET proto-onkogenu u pacientů bez klasických mutací

Classification

  • Type

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

  • CEP classification

    FP - Other medical fields

  • OECD FORD branch

Result continuities

  • Project

    <a href="/en/project/NR7806" target="_blank" >NR7806: RET proto-oncogene in the pathogenesis of medullary and papillary thyroid carcinoma in Czech population</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2005

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Journal of Endocrinological Investigation

  • ISSN

    0391-4097

  • e-ISSN

  • Volume of the periodical

    28

  • Issue of the periodical within the volume

    10

  • Country of publishing house

    IT - ITALY

  • Number of pages

    5

  • Pages from-to

    905-909

  • UT code for WoS article

  • EID of the result in the Scopus database