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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.

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Title: Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Authors: Fleige T; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany. t.fleige@labor-becker.de., Burggraf S; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Czibere L; Laboratory Becker & Colleagues, Führichstr. 70, 81671, Munich, Germany., Häring J; 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., Harms E; University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany., Hohenfellner K; Pediatric Nephrology, RoMed Klinikum Rosenheim, Pettenkoferstr. 10, 83022, Rosenheim, 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., 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 Feb; Vol. 28 (2), pp. 193-201. Date of Electronic Publication: 2019 Sep 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/s41431-019-0521-3