Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.

doi:10.1136/jmg.29.12.897

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Article

Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.

Journal of medical genetics - 1 Dec 1992

Hiraishi Y, Kato S, Ishihara T, Takano T

Abstract excerpt

Eighty-four unrelated patients with Duchenne or Becker muscular dystrophy in Japan were studied by quantitative Southern blot analysis with dystrophin cDNA probes. We found partial deletions and duplications in 47 (56%) and 12 (14%) cases respectively by HindIII digestion. The duplications were confirmed by BglII digestion and densitometric scanning. The frequency of duplications in this study is significantly...

Topics

Adolescent
Adult
Bacterial Proteins
Blotting, Southern
Child
Densitometry
Deoxyribonuclease HindIII
Deoxyribonucleases, Type II Site-Specific
Dystrophin
Exons
Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Japan

Male

Multigene Family

Muscular Dystrophies

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Identifiers

PMID: 1362223
DOI: 10.1136/jmg.29.12.897
PMCID: PMC1016209

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1362223-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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