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Article

Direct DNA testing for fragile X syndrome.

American journal of diseases of children (1960) - 1 Nov 1993

Ramos F J, Eunpu D L, Finucane B, Pfendner E G

Abstract excerpt

The recent identification of an abnormally amplified trinucleotide (cytosine guanine guanine) repeat in the fragile X gene (FMR-1) of males with fragile X syndrome and their carrier mothers allows the study of the mutation in individuals at risk. In this report, data on 396 patients and 35 normal controls are reported. Included in this sample are patients with no known family history of fragile X syndrome or...

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Source

Identifiers

PMID: 7901988
DOI: 10.1001/archpedi.1993.02160350105016

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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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