Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
Titel:
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
Auteur:
Kleinle, Stephanie Scholz, Veronika Benet-Pagés, Anna Wohlfrom, Tobias Gehling, Stefanie Scharf, Florentine Rost, Simone Prott, Eva-Christina Grinzinger, Susanne Hotter, Anna Haug, Verena Niemeier, Sabine Wiethoff-Ubrig, Lucia Hagenacker, Tim Goldhahn, Klaus von Moers, Arpad Walter, Maggie C. Reilich, Peter Eggermann, Katja Kraft, Florian Kurth, Ingo Erdmann, Hannes Holinski-Feder, Elke Neuhann, Teresa Abicht, Angela