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Article

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

Trends in genetics : TIG - 1 Apr 1994

Patel P I, Lupski J R

Abstract excerpt

Recent work has identified the genes and mutational mechanisms that underlie several inherited diseases of the peripheral nervous system and has provided both the first genetic rationale for classification of these disorders and an insight into their biological basis. These studies have yielded some surprising findings, including the discovery that two very different mutational mechanisms (duplication and point...

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PMID: 7518101
DOI: 10.1016/0168-9525(94)90214-3

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