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

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

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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Bibliographic Details
Main Authors: Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T. den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
DMD
whole genome sequencing (WGS)
inversion
dystrophinopathies
Online Access:https://www.mdpi.com/1422-0067/23/1/59

Internet

https://www.mdpi.com/1422-0067/23/1/59

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