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The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced
The largest known gene is the human dystrophin gene, which has 79 exons spanning at least 2,300 kilobases (kb). Transcript accumulation was monitored from four regions of the gene following inductionExpand
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A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
Malignant hyperthermia (MH) is a devastating, potentially lethal response to anesthetics that occurs in genetically predisposed individuals. The skeletal muscle ryanodine receptor (RYR1) gene hasExpand
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Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.
The multiple copies of the human ribosomal RNA genes (rDNA) are arranged as tandem repeat clusters that map to the middle of the short arms of chromosomes 13, 14, 15, 21, and 22. Concerted evolutionExpand
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The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
Duchenne muscular dystrophy (DMD) and its milder form, Becker muscular dystrophy (BMD), are allelic X-linked muscle disorders in man1. The gene responsible for the disease has been cloned fromExpand
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Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome
SummaryA young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizerExpand
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Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder which affects approximately 1 in 3,300 males, making it the most common of the neuromuscular dystrophies (see ref. 1 for review).Expand
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Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene.
Duchenne muscular dystrophy (DMD) gene transcripts are most abundant in normal skeletal and cardiac muscle and accumulate as normal myoblasts differentiate into multinucleated myotubes. In thisExpand
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Dystrophin expression in the human retina is required for normal function as defined by electroretinography
We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electroretinograms with a markedly reduced amplitude for theExpand
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A cDNA clone from the Duchenne/Becker muscular dystrophy gene
Duchenne muscular dystrophy (DMD) is the most common of the muscular dystrophies affecting one in 3,000 live male births (see refs 1, 2 for review). Both DMD and the mild form, Becker muscularExpand
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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.
Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Partial gene duplication has also been recognized in a fewExpand
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