Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F08%3A4031" target="_blank" >RIV/00064203:_____/08:4031 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/08:4031
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Original language description
Smith-Lemli-Opitz syndrome (SLOS) (MIM 270400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the ^7-sterol reductase (DHCR7, E.C.1.3.1.21) gene.
Czech name
Věk a původ závažných mutací Smith-Lemli-Opitzova syndromu (SLOS) v evropské populaci.
Czech description
Smith-Lemli-Opitzův syndrom (SLOS) (MIM 270400) je autosomálně recesivní syndrom mnohočetných vrozených malformací, mentální a růstové retardace.
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
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Continuities
R - Projekt Ramcoveho programu EK
Others
Publication year
2008
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 Medical Genetics
ISSN
0022-2593
e-ISSN
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Volume of the periodical
45
Issue of the periodical within the volume
4
Country of publishing house
GB - UNITED KINGDOM
Number of pages
10
Pages from-to
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UT code for WoS article
000254562600002
EID of the result in the Scopus database
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