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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

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Title: High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
Authors: Czibere L; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany. l.czibere@labor-becker.de., Burggraf S; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Fleige T; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Glück B; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Keitel LM; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Landt O; TIB Molbiol GmbH, Eresburgstr. 22-23, 12103, Berlin, Germany., Durner J; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany., Röschinger W; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Hohenfellner K; Pediatric Nephrology, RoMed Klinikum Rosenheim, Pettenkoferstr. 10, 83022, Rosenheim, Germany., Wirth B; Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Müller-Felber W; Division of Pediatric Neurology, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Lindwurmstr. 4, 80337, Munich, Germany., Vill K; Division of Pediatric Neurology, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Lindwurmstr. 4, 80337, Munich, Germany., Becker M; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany.; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig Maximilian University Munich, Goethestr. 70, 80337, Munich, Germany.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 23-30. Date of Electronic Publication: 2019 Jul 30.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-019-0476-4