Molecular diagnosis of McArdle disease using whole-exome sequencing

Whole-exome sequencing (WES) analysis has been used recently as a diagnostic tool for finding molecular defects. In the present study, researchers attempted to analyze molecular defects through WES in a 13-year-old female patient who had not been diagnosed through a conventional genetic approach. DN...

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Detalles Bibliográficos
Autores principales: Kang, Ju-Hyung, Park, Jun-Hyung, Park, Jin-Soon, Lee, Seong-Kyu, Lee, Sunghoon, Baik, Haing-Woon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8343624/
https://www.ncbi.nlm.nih.gov/pubmed/34373715
http://dx.doi.org/10.3892/etm.2021.10461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8343624/
https://www.ncbi.nlm.nih.gov/pubmed/34373715
http://dx.doi.org/10.3892/etm.2021.10461

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