Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5121" target="_blank" >RIV/00064203:_____/09:5121 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/09:5121
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
Original language description
Myotonic dystrophy type I is caused by the expansion of a CTG repeat in the 3' UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions.
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
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Continuities
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
American Journal of Medical Genetics. Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
149A
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
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UT code for WoS article
000267770000001
EID of the result in the Scopus database
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