| ZAPLETALOVÁ, Eva, Petra HEDVIČÁKOVÁ, Libor KOZÁK, Petr VONDRÁČEK, Renata GAILLYOVÁ, Taťána MAŘÍKOVÁ, Zdeněk KALINA, Věra JÜTTNEROVÁ, Jiří FAJKUS a Lenka FAJKUSOVÁ. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscular Disorders. USA: Pergamon-Elsevier Science Ltd, 2007, roč. 17, č. 6, s. 476-481. ISSN 0960-8966. |
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@article{720488,
author = {Zapletalová, Eva and Hedvičáková, Petra and Kozák, Libor and Vondráček, Petr and Gaillyová, Renata and Maříková, Taťána and Kalina, Zdeněk and Jüttnerová, Věra and Fajkus, Jiří and Fajkusová, Lenka},
article_location = {USA},
article_number = {6},
keywords = {SMN1; SMA; point mutation},
language = {eng},
issn = {0960-8966},
journal = {Neuromuscular Disorders},
title = {Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy},
volume = {17},
year = {2007}
}
TY - JOUR
ID - 720488
AU - Zapletalová, Eva - Hedvičáková, Petra - Kozák, Libor - Vondráček, Petr - Gaillyová, Renata - Maříková, Taťána - Kalina, Zdeněk - Jüttnerová, Věra - Fajkus, Jiří - Fajkusová, Lenka
PY - 2007
TI - Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
JF - Neuromuscular Disorders
VL - 17
IS - 6
SP - 476
EP - 476
PB - Pergamon-Elsevier Science Ltd
SN - 09608966
KW - SMN1
KW - SMA
KW - point mutation
N2 - . We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301 patients and only 1 SMN1 copy was detected in 14 of them. When these 14 patients were screened for the presence of point mutations we identified 6 mutations.
ER -
ZAPLETALOVÁ, Eva, Petra HEDVIČÁKOVÁ, Libor KOZÁK, Petr VONDRÁČEK, Renata GAILLYOVÁ, Taťána MAŘÍKOVÁ, Zdeněk KALINA, Věra JÜTTNEROVÁ, Jiří FAJKUS a Lenka FAJKUSOVÁ. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. \textit{Neuromuscular Disorders}. USA: Pergamon-Elsevier Science Ltd, 2007, roč.~17, č.~6, s.~476-481. ISSN~0960-8966.
|
