Další formáty:
BibTeX
LaTeX
RIS
@inproceedings{622807,
author = {Fajkusová, Lenka and Zapletalová, Eva and Vondráček, Petr and Gaillyová, Renata},
address = {Oslo},
booktitle = {Functional genomics and disease},
keywords = {SMA; SMN1; SMN2; copy number},
language = {eng},
location = {Oslo},
pages = {96-97},
publisher = {Neuveden},
title = {Analysis of SMN gene regions in patients with spinal muscular atrophy},
url = {www.esffg2005.org},
year = {2005}
}
TY - JOUR
ID - 622807
AU - Fajkusová, Lenka - Zapletalová, Eva - Vondráček, Petr - Gaillyová, Renata
PY - 2005
TI - Analysis of SMN gene regions in patients with spinal muscular atrophy
PB - Neuveden
CY - Oslo
KW - SMA
KW - SMN1
KW - SMN2
KW - copy number
UR - www.esffg2005.org
N2 - Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, characterized by the loss of motor neurons in the spinal cord, leading to proximal, symetrical limb, and trunk muscle weakness. The gene implicated in SMA is the survival motor neuron gene (SMN) located on chromosome 5q13. In humans, the SMN gene is duplicated, occurrings as the telomeric (SMN1) and centromeric copy (SMN2). Both genes encode the SMN protein but due to alternative splicing the SMN2 genes produce only low levels of functional protein. Homozygous SMN1 deletions were found in ca 95% of SMA cases.
ER -
FAJKUSOVÁ, Lenka, Eva ZAPLETALOVÁ, Petr VONDRÁČEK a Renata GAILLYOVÁ. Analysis of SMN gene regions in patients with spinal muscular atrophy. In \textit{Functional genomics and disease}. Oslo: Neuveden, 2005, s.~96-97. ISSN~1351-5101.
|
