Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in ...
SEDLÁČKOVÁ, Jana, Lenka FAJKUSOVÁ and Zdeněk LUKÁŠ. Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in Czech patients. In Neuromuscular disorders. 2006. ISSN 0960-8966. |
Other formats:
BibTeX
LaTeX
RIS
|
Basic information | |
---|---|
Original name | Molecular genetic diagnostics of myotonic dystrophy and facioscapulohumeral muscular dystrophy in Czech patients |
Name in Czech | Molekulárně genetická diagnostika myotonické dystrofie a facioskapulohumerální svalové dystrofie u českých pacientů |
Authors | SEDLÁČKOVÁ, Jana (203 Czech Republic), Lenka FAJKUSOVÁ (203 Czech Republic, guarantor) and Zdeněk LUKÁŠ (203 Czech Republic). |
Edition | Neuromuscular disorders, 2006. |
Other information | |
---|---|
Original language | English |
Type of outcome | Conference abstract |
Field of Study | Genetics and molecular biology |
Country of publisher | United States of America |
Confidentiality degree | is not subject to a state or trade secret |
Impact factor | Impact factor: 2.615 |
RIV identification code | RIV/00216224:14310/06:00018007 |
Organization unit | Faculty of Science |
ISSN | 0960-8966 |
UT WoS | 000241369400098 |
Keywords in English | myotonic dystrophy; facioscapulohumeral muscular dystrophy |
Tags | facioscapulohumeral muscular dystrophy, myotonic dystrophy |
Tags | International impact |
Changed by | Changed by: Mgr. Jana Zídková, Ph.D., učo 22654. Changed: 19/3/2010 12:11. |
Abstract |
---|
DNA diagnostics of MD2 was performed in 100 patients with suspicion of MD2. In case of 48 patients, MD2 was confirmed. DNA diagnostics of FSHD was performed in 32 patients with suspicion of FSHD and confirmed in case of 19 patients. |
Abstract (in Czech) |
---|
DNA diagnostika MD2 byla provedena u 100 pacientů s podezřením na MD2 a potvrzena u 48 pacientů. DNA diagnostika FSHD byla provedena u 32 pacientů s podezřením na FSHD a potvrzena u 19 z nich. |
Links | |
---|---|
MSM0021622415, plan (intention) | Name: Molekulární podstata buněčných a tkáňových regulací |
Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations |
PrintDisplayed: 30/4/2024 13:07