Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse qua...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Shastry, Arun, Aravind, Sankaramoorthy, Sunil, Meeta, Ramesh, Keerthi, Ashley, Berty, T., Nithyanandan, Ramprasad, Vedam L., Gupta, Ravi, Seshagiri, Somasekar, Nongthomba, Upendra, Phalke, Sameer
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172192/
https://ncbi.nlm.nih.gov/pubmed/33960727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1633
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