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Article

[Diseases due to instability of DNA].

Neurologia (Barcelona, Spain) - 1 Dec 1995

López de Muniain A, Cobo A M, Poza J J, Sáenz A

Abstract excerpt

The catalog of genetic diseases whose mutational mechanisms are based on the expansion of nucleotide triplets includes 8 disorders classified in terms of type of triplet sequence and the mechanism by which the mutation manifests clinically. To date there are 3 groups. The first is made up of several mental retardation syndromes linked to fragility in the X chromosome (FRAXA, FRAXE, FRAXF, FRA16), with CGG type...

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PMID: 8838555

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