Další formáty:
BibTeX
LaTeX
RIS
@inproceedings{750327,
author = {Hedvičáková, P. and Vondráček, Petr and Fajkusová, Lenka and Zapletalová, Eva},
address = {Oxford},
booktitle = {Neuromuscular Disorders},
keywords = {SMN1 gene; SMA},
language = {eng},
location = {Oxford},
pages = {793-793},
publisher = {Pergamon-Elsevier Science Ltd},
title = {Analysis of point mutations in the SMN1 gene in Czech SMA patients},
year = {2007}
}
TY - JOUR
ID - 750327
AU - Hedvičáková, P. - Vondráček, Petr - Fajkusová, Lenka - Zapletalová, Eva
PY - 2007
TI - Analysis of point mutations in the SMN1 gene in Czech SMA patients
PB - Pergamon-Elsevier Science Ltd
CY - Oxford
KW - SMN1 gene
KW - SMA
N2 - We performed analysis of point mutations in SMN1 gene at a set of patients in suspition of SMA and bearing one copy of the SMN1 gene. The assay based on Long-range PCR, nested PCR of individual exons and sequencing was performed at 14 patients. Point mutations were identified at 6 of them. Two mutations have not been published yet.
ER -
HEDVIČÁKOVÁ, P., Petr VONDRÁČEK, Lenka FAJKUSOVÁ a Eva ZAPLETALOVÁ. Analysis of point mutations in the SMN1 gene in Czech SMA patients. In \textit{Neuromuscular Disorders}. Oxford: Pergamon-Elsevier Science Ltd, 2007, s.~793. ISSN~0960-8966.
|
