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A multi-source approach to determine SMA incidence and research ready population

A multi-source approach to determine SMA incidence and research ready population

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5502065

A multi-source approach to determine SMA incidence and research ready population

About this item

Full title

A multi-source approach to determine SMA incidence and research ready population

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Journal of neurology, 2017-07, Vol.264 (7), p.1465-1473

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

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 Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations.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

Identifiers

Primary Identifiers

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

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