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Article

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Human molecular genetics - 1 Sept 1994

Snow K, Tester D J, Kruckeberg K E, Schaid D J, Thibodeau S N

Abstract excerpt

This study addresses mechanism of instability of the FMR-1 (CGG)n-repeat, and investigates features which may distinguish between normal stable and fragile X unstable repeats. To achieve this, we have sequenced 178 alleles to analyze patterns of AGG interruptions within the CGG repeat, and have typed the (CA)n-repeat at DXS548 for 204 chromosomes. Overall, our data is consistent with the idea that the length of...

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PMID: 7833909
DOI: 10.1093/hmg/3.9.1543

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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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Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.PMID 7833909Read ↗

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