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- Title:
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Segarra-Casas, Alba ; Yépez, Vicente A. ; Demidov, German ; Laurie, Steven ; Esteve-Codina, Anna ; Gagneur, Julien ; Parkhurst, Yolande ; Muni-Lofra, Robert ; Harris, Elizabeth ; Marini-Bettolo, Chiara ; Straub, Volker ; Töpf, Ana
- Keywords:
- Article ; Duchenne muscular dystrophy ; female carrier ; DMD ; genetic diagnosis ; RNA sequencing ; whole genome sequencing ; translocation
- Journal title:
- International Journal of Molecular Sciences
- Year:
- 2024
- Journal volume:
- 25
- Journal issue:
- 14
- Fulltext / DOI:
- doi:10.3390/ijms25147793
- Publisher:
- MDPI
- E-ISSN:
- 1422-0067
- Date of publication:
- 16.07.2024
- CC license:
- by, https://creativecommons.org/licenses/by/4.0
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