dystrophin, DMD or BMD gene

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Introduction

largest gene identified in humans. Length is more than 2.5 million base pairs, corresponding to ~ 0.1% of the genome and ~1.5% of the X chromosome. Transcription by RNA polymerase 2 is calculated to take about 14 hours.

More general terms

References

  1. Bar S et al A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 272:557 1990 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2176467
  2. OMIM https://mirror.omim.org/entry/310200
  3. Muntoni F et al Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurology 2:731-40, 2003 PMID: https://www.ncbi.nlm.nih.gov/pubmed/14636778

Database