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Article

[Unstable mutations, new challenges for genetic counseling of inherited disorders].

Revista de biologia tropical - 1 Sept 2004

Cuenca Patricia, Morales Fernando

Abstract excerpt

Unstable mutations or amplification of DNA tandem repeats sequences constitute a new kind of genetic alteration discovered in the 90's that cause hereditary diseases. This mutation has been found inside or near important genes involved in the normal neurological function in human beings. In some cases, the presence of the amplification causes altered expression of the genes, their inactivation or the synthesis of...

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Share to Repetitive Sequences, Nucleic Acid

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PMID: 17361542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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