Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F04%3A00008167" target="_blank" >RIV/00216208:11110/04:00008167 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria
Original language description
Identification and functional analysis, two novel mutations, CBS gene in Polish patients, homocystinuria
Czech name
Identifikace a funkční analýza dvou nových mutací v genu pro CBS u polských pacientů s homocystinurií
Czech description
homocystinurie, CBS, Polsko

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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Project
<a href="/en/project/GP305%2F02%2FD167" target="_blank" >GP305/02/D167: The chaperones and stress factors effect on folding and stability of the wild type and mutant cystathionine beta-synthase (CBS)</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2004
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Result description