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

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 Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations.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

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Detalles Bibliográficos
Autores principales: Verhaart, Ingrid E. C., Robertson, Agata, Leary, Rebecca, McMacken, Grace, König, Kirsten, Kirschner, Janbernd, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502065/
https://www.ncbi.nlm.nih.gov/pubmed/28634652
http://dx.doi.org/10.1007/s00415-017-8549-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502065/
https://www.ncbi.nlm.nih.gov/pubmed/28634652
http://dx.doi.org/10.1007/s00415-017-8549-1

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