Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5649" target="_blank" >RIV/00064203:_____/09:5649 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/09:5649
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Original language description
Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade.
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
<a href="/en/project/NR9457" target="_blank" >NR9457: Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Medical Genetics
ISSN
1769-7212
e-ISSN
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Volume of the periodical
52
Issue of the periodical within the volume
5
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
4
Pages from-to
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UT code for WoS article
000270124300012
EID of the result in the Scopus database
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