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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...

Topics

Adolescent
Amino Acid Sequence
Base Sequence
Blotting, Western
DNA
Dystrophin
Exons
Humans
Male
Molecular Sequence Data
Muscular Dystrophies
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2071150-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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