Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F01%3A00104171" target="_blank" >RIV/00216208:11130/01:00104171 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing
Original language description
Mutations in the X chromosomal gene Connexin32 are detectable in most X-linked CMT families.We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 in a Czech CMTX1 family.
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
<a href="/en/project/NF6504" target="_blank" >NF6504: Detection of point mutations i Cx32, MPZ, EGR2 and PMP22 genes in patients with inherited peripheral neuropathies without 17p11.2-12 rearrangement</a><br>
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2001
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Molecular Medicine
ISSN
1107-3756
e-ISSN
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Volume of the periodical
8/4
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
461-468
UT code for WoS article
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EID of the result in the Scopus database
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