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Article

Point mutation in the human dystrophin gene: identification through western blot analysis.

Genomics - 1 Jun 1991

Bulman D E, Gangopadhyay S B, Bebchuck K G, Worton R G, Ray P N

Abstract excerpt

Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. The estimated molecular mass of 126 kDa predicted the approximate location of the mutation in the...

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PMID: 2071150
DOI: 10.1016/0888-7543(91)90332-9

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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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