ArticleHuman genetics1994
Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 13 citations in OpenAlex.
- The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.Journal of molecular neuroscience : MN · 2020Article
- Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Journal of genetics · 2016Article
- Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.PloS one · 2013Article
- Identification of variable length polyadenosine tract at the dystrophin locus.Human genetics · 1995Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
One third of mutations responsible for Duchenne or Becker muscular dystrophy (DMD/BMD) represent point mutations or other small sequence alterations not readily detectable by Southern blot analysis or multiplex amplification. Here, we report results of a comprehensive point mutation search that yielded seven new sequence variations and one novel polymorphism. We also summarize known mutations, polymorphisms and other small nucleotide variations in the DMD gene. To date, 12 nonsense mutations, two missense mutations, six microdeletions and one microinsertion have been reported in the coding sequence and a further six mutations in splice sites all of which were made responsible for the disease. Twelve polymorphisms with frequencies suitable for diagnostic purposes have been detected. A further 28 differences from the published sequence of the coding sequence or the promoter region are described.
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