Article
Point mutations in the dystrophin gene.
Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 1992
Roberts R G, Bobrow M, Bentley D R
Abstract excerpt
Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements of the dystrophin gene. The size and complexity of the gene have...
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