Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Erbe, Leoni S.; Hoffjan, Sabine; Janssen, Soeren; Kneifel, Moritz; Krause, Karsten; Gerding, Wanda M.; Doering, Kristina; Guettsches, Anne-Katrin; Roos, Andreas; Atienza, Elena Buena; Gross, Caspar; Luecke, Thomas; Nguyen, Hoa Huu Phuc; Vorgerd, Matthias; Koehler, Cornelia

Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

Author:

Erbe, Leoni S.; Hoffjan, Sabine; Janssen, Soeren; Kneifel, Moritz; Krause, Karsten; Gerding, Wanda M.; Doering, Kristina; Guettsches, Anne-Katrin; Roos, Andreas; Atienza, Elena Buena; Gross, Caspar; Luecke, Thomas; Nguyen, Hoa Huu Phuc; Vorgerd, Matthias; Koehler, Cornelia

Tübinger Autor(en):

Atienza, Elena Buena
Gross, Caspar

Published in:

International Journal of Molecular Sciences (2023), Bd. 24, H. 19

Verlagsangabe:

Basel : Mdpi

Language:

English

Full text:

http://dx.doi.org/10.3390/ijms241914716

ISSN:

1661-6596