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- W26852845 abstract "Publisher Summary This chapter describes the applications of molecular genetics to restorative neurology. The use of DNA probes that exhibit restriction fragment length polymorphisms combined with linkage analysis in pedigrees affected with either autosomal dominant or recessive disorders has resulted in the chromosomal localization of the mutant gene in over 25 diseases. The application of reverse genetics, which is going from a gene to discover the cellular protein for which it encodes, has been used successfully in Duchenne muscular dystrophy (DMD). The gene causing DMD was localized to the mid-region of the short arm of the X chromosome by cytogenetic techniques taking advantage of translocations and other mutations that caused Duchenne-like illness in females. In females with translocation, the finding that in every case the Xp21 region of the X chromosome was disrupted gave the first definitive clue to the chromosomal site of the mutation. A molecular and genetic analysis of the numerous mutations affecting the dystrophin gene has provided fascinating examples to explain the differences in Duchenne and Becker phenotypes." @default.
- W26852845 created "2016-06-24" @default.
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- W26852845 date "1992-01-01" @default.
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- W26852845 title "Applications of molecular genetics to restorative neurology" @default.
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- W26852845 doi "https://doi.org/10.1016/b978-0-7506-1172-5.50024-7" @default.
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