Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations

BACKGROUND & OBJECTIVES: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene. Diagnosis of DMD has been a challenge as the mutations in the DMD gene are heterogeneous and require more than one diagn...

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Detalles Bibliográficos
Autores principales: Aravind, Sankaramoorthy, Ashley, Berty, Mannan, Ashraf, Ganapathy, Aparna, Ramesh, Keerthi, Ramachandran, Aparna, Nongthomba, Upendra, Shastry, Arun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886143/
https://www.ncbi.nlm.nih.gov/pubmed/31719299
http://dx.doi.org/10.4103/ijmr.IJMR_290_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886143/
https://www.ncbi.nlm.nih.gov/pubmed/31719299
http://dx.doi.org/10.4103/ijmr.IJMR_290_18

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