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Article

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

The Indian journal of medical research - 1 Sept 2019

Aravind Sankaramoorthy, Ashley Berty, Mannan Ashraf, Ganapathy Aparna, Ramesh Keerthi, Ramachandran Aparna, Nongthomba Upendra, Shastry Arun

Abstract excerpt

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 diagnostic strategy for the validation of the mutation. This study was planned to evaluate the targeted next-generation...

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Source

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Identifiers

PMID: 31719299
DOI: 10.4103/ijmr.IJMR_290_18
PMCID: PMC6886143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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