A multi-source approach to determine SMA incidence and research ready population
A multi-source approach to determine SMA incidence and research ready population
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the
SMN1
gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laborat...
Alternative Titles
Full title
A multi-source approach to determine SMA incidence and research ready population
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5502065
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5502065
Other Identifiers
ISSN
0340-5354,1432-1459
E-ISSN
1432-1459
DOI
10.1007/s00415-017-8549-1