Severe demyelinating CMT disease with infantile onset, scoliosis and late onset hearing loss in two czech families, caused by recurrently by de novo mutation(292CT,Arg98Cys) in myelin protein zero gene evidence for hot spot
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F02%3A00000016" target="_blank" >RIV/00216208:11130/02:00000016 - 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
Severe demyelinating CMT disease with infantile onset, scoliosis and late onset hearing loss in two czech families, caused by recurrently by de novo mutation(292CT,Arg98Cys) in myelin protein zero gene evidence for hot spot
Original language description
The mutation Glu97Val of MPZ gene result in a phenotype with progressive hearing loss, abnormal pupillary reaction(adie's) and no pes cavus deformity.
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
FE - Other fields of internal medicine
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
2002
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 the Neurological Sciences
ISSN
0022-510X
e-ISSN
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Volume of the periodical
199
Issue of the periodical within the volume
Suppl. 1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
1
Pages from-to
63-63
UT code for WoS article
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EID of the result in the Scopus database
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