Charcot-marie-Tooth lA: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F99%3A00000031" target="_blank" >RIV/00064203:_____/99:00000031 - 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 lA: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype
Original language description
A tandem duplication of 1,5 Mb in chromosome 17p11.2-12 comprising the peripheral myelin protein 22 (PMP22) gene is found in about 84% of autosomal dominant Charcot-mari-Tooth type 1A disease patients
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
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
1999
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of New York Academy of Sciences
ISSN
0077-8923
e-ISSN
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Volume of the periodical
883
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
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UT code for WoS article
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EID of the result in the Scopus database
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