Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Authors:
Blasco-Pérez L; Paramonov I; Leno J; Bernal S; Alias L and 3 more

Journal:
Hum Mutat

Publication Year: 2021

DOI:
10.1002/humu.24200

PMCID:
PMC8252042

PMID:
33739559

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"CONFLICT OF INTERESTS A patent is in preparation for this methodology and pipeline (I.C. and E. F. T.). E.F.T has received grant support to conduct clinical trials on SMA from Ionis/Biogen and serves as a consultant to AveXis, Novartis, Biogen, Biologix, Cytokinetics, Roche. The remaining authors declare that there are no conflict of interests."

Evidence found in paper:

"This study was supported by Grants from Biogen ESP‐SMG‐17‐11256 and Galicia AME (to E. F. T. supporting L. B.‐P.), “Fundación Daniel Bravo Andreu” (to E. F. T. and P. F.‐P.), SMA Europe (to E.F.T and P.F.‐P.), and Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofunded with ERDF funds (Grant No. FIS PI18/000687) (to E. F. T. and L. A.)."

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Paper is freely available to read
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Last Updated: Aug 05, 2025