Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10209590" target="_blank" >RIV/00064203:_____/13:10209590 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10209590
Result on the web
<a href="http://dx.doi.org/10.1093/brain/aws333" target="_blank" >http://dx.doi.org/10.1093/brain/aws333</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/brain/aws333" target="_blank" >10.1093/brain/aws333</a>
Alternative languages
Result language
angličtina
Original language name
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
Original language description
We report a second family with non-syndromic inherited demyelinating motor and sensory neuropathy (HMSN I) with FBLN5 mutation and confirm FBLN5 mutations as the new cause of HMSN I.
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
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Brain
ISSN
0006-8950
e-ISSN
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Volume of the periodical
136
Issue of the periodical within the volume
7
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
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UT code for WoS article
000321060200001
EID of the result in the Scopus database
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