NGS on DBS causal mutations in patients with inherited metabolic disease

”A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic disease”;

F. Boemer, C. Fasquelle, S. d’Otreppe, C. Josse , V. Dideberg, K. Segers, V. Guissard, V. Capraro, FG. Debray and V. Bours; SCIENTIFIC REPORTS, 2017 ; 7: 17641

https://www.nature.com/articles/s41598-017-18038-x

Skills

Posted on

June 26, 2018