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Article

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR.

Human molecular genetics - 22 Nov 2000

Crawford D C, Wilson B, Sherman S L

Abstract excerpt

The fragile X syndrome is one of more than a dozen genetic diseases attributed to the amplification of a trinucleotide repeat. Despite the number of these disease loci, relatively little is known about the mechanism(s) that cause a stable allele to become unstable. Population and family studies of the fragile X CGG repeat have identified a number of factors that may play a role in repeat instability including the...

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PMID: 11092767
DOI: 10.1093/hmg/9.19.2909

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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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