Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)

While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this work, we present a Becker Muscular Dystrophy patien...

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Detalles Bibliográficos
Autores principales: Gonçalves, Ana, Fortuna, Ana, Ariyurek, Yavuz, Oliveira, Márcia E., Nadais, Goreti, Pinheiro, Jorge, den Dunnen, Johan T., Sousa, Mário, Oliveira, Jorge, Santos, Rosário
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744749/
https://www.ncbi.nlm.nih.gov/pubmed/35008485
http://dx.doi.org/10.3390/ijms23010059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744749/
https://www.ncbi.nlm.nih.gov/pubmed/35008485
http://dx.doi.org/10.3390/ijms23010059

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