New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A4879" target="_blank" >RIV/00216208:11110/09:4879 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/09:4879
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Original language description
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1and PKD2 genes. Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD 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
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NR9427" target="_blank" >NR9427: Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)
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
BMC Medical Genetics
ISSN
1471-2350
e-ISSN
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Volume of the periodical
10
Issue of the periodical within the volume
78 art. nu
Country of publishing house
GB - UNITED KINGDOM
Number of pages
10
Pages from-to
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UT code for WoS article
000269563900001
EID of the result in the Scopus database
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