Analysis of SMN gene regions in patients with spinal muscular atrophy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F05%3A00014853" target="_blank" >RIV/00216224:14310/05:00014853 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Analysis of SMN gene regions in patients with spinal muscular atrophy

Original language description

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.

Czech name

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Czech description

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Type

D - Article in proceedings

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2005

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Article name in the collection

Functional genomics and disease

ISBN

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ISSN

1351-5101

e-ISSN

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Number of pages

2

Pages from-to

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Publisher name

Neuveden

Place of publication

Oslo

Event location

Oslo

Event date

Sep 6, 2005

Type of event by nationality

WRD - Celosvětová akce

UT code for WoS article

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