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.
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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
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