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Article

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.

Neurology - 28 Aug 2001

Mendell J R, Buzin C H, Feng J, Yan J, Serrano C, Sangani D S, Wall C, Prior T W, Sommer S S

Abstract excerpt

OBJECTIVE: To determine whether detection of small mutations of the dystrophin gene can be increased using an enhanced method of single-strand conformation polymorphism analysis. BACKGROUND: Usual methods of DNA analysis for Duchenne dystrophy cannot identify mutations in one-third of cases. Muscle biopsy, with its inherent risks and added liability for patients with Duchenne dystrophy, becomes the sole method of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11524473
DOI: 10.1212/wnl.57.4.645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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