Detection of SMN1 loss with PCR-based screening test
Author:
Affiliation:
1. Federal State Budgetary Educational Institution of Higher Education Academician I.P. Pavlov First St. Petersburg State Medical University of the Ministry of Healthcare of Russian Federation, Russia
2. DNA-Technology LLC, Moscow, Russia
Abstract
Publisher
Pirogov Russian National Research Medical University
Subject
General Medicine
Reference23 articles.
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2. Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, et al. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017; 190: 124–129. DOI: 10.1016/j.jpeds.2017.06.042.
3. Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal Muscular Atrophy. Semin Pediatr Neurol. 2021; 37: 100878. DOI: 10.1016/j.spen.2021.100878.
4. Clermont O, Burlet P, Benit P, Chanterau D, Saugier-Veber P, Munnich A, et al. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat. 2004; 24 (5): 417–27. DOI: 10.1002/humu.20092.
5. Zabnenkova VV, Dadali EL, Spiridonova MG, Zinchenko RA, Polyakov AV. Spinal muscular atrophy carrier frequency in Russian Federation. ASHG. 2016. DOI: 10.13140/RG.2.2.16245.60642.
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