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Article

[Genetic diseases and unstable expansions of trinucleotide repeats].

La Revue du praticien - 15 Jan 1997

Mandel J L

Abstract excerpt

More than 10 genetic diseases, including 3 frequent ones (the fragile X mental retardation syndrome, myotonic dystrophy and Huntington's disease) are caused by unstable expansions of trinucleotide repeats. The instability of these mutations and their strong tendency to further expansion, account for the special characteristics of the mode of inheritance of these diseases. Unlike most other genetic diseases, that...

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PMID: 9157513

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[Unstable mutations, new challenges for genetic counseling of inherited disorders].Semantic proximity Read ↗

Fragile X and other trinucleotide repeat diseases.Semantic proximity Read ↗

Trinucleotide repeats: mechanisms and pathophysiology.Semantic proximity Read ↗

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