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Article

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

American journal of human genetics - 1 Dec 1993

Snow K, Doud L K, Hagerman R, Pergolizzi R G, Erster S H, Thibodeau S N

Abstract excerpt

In this study, we have characterized a CGG repeat at the FMR-1 locus in more than 100 families (more than 500 individuals) presenting for fragile X testing and in 247 individuals from the general population. Both Southern blot and PCR-based assays were evaluated for their ability to detect premutations, full mutations, and variability in normal allele sizes. Among the Southern blot assays, the probes Ox1.9 or...

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Identifiers

PMID: 7902673
PMCID: PMC1682501

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

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Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.PMID 7902673Read ↗

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