Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6452" target="_blank" >RIV/00064203:_____/10:6452 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/10:6452
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease
Original language description
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Five mutations seem to be pathogenic and one V170I is a non-pathogenic polymorphism.
Czech name
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Czech description
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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
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Result continuities
Project
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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
Genetic Testing and Molecular Biomarkers
ISSN
1945-0265
e-ISSN
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Volume of the periodical
14
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
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UT code for WoS article
000274422700002
EID of the result in the Scopus database
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