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pro vyhledávání: '"Shalini H Kumar"'
Autor:
Shalini H Kumar, Kalpana Athimoolam, Manikandan Suraj, Mary Shoba Das Christu Das, Aparna Muralidharan, Divya Jeyam, Jaicy Ashokan, Priya Karthikeyan, Ragav Krishna, Arati Khanna-Gupta, Lakshmi Bremadesam Raman
Publikováno v:
PLoS ONE, Vol 15, Iss 6, p e0232654 (2020)
Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affe
Externí odkaz:
https://doaj.org/article/b8075343368c4052a051bdd8e51d7487
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
Abstract Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscula
Externí odkaz:
https://doaj.org/article/b0daa1986355435ebb4c8891725167ce