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Article

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.

Experimental & molecular medicine - 30 Apr 2003

Mukherjee Monisha, Chaturvedi L S, Srivastava Sandhya, Mittal R D, Mittal Balraj

Abstract excerpt

Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped exonic deletions. We have used 4 STR...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12754415
DOI: 10.1038/emm.2003.16

Genes

DMD

Provenance

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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