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@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.
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