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Article

Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes.

American journal of medical genetics - 15 Jul 1994

Mingroni-Netto R C, Fernandes J G, Vianna-Morgante A M

Abstract excerpt

Expression of the fragile site Xq27.3 was investigated in 82 heterozygotes (58 normal and 24 mentally impaired) diagnosed by DNA analysis. EcoRI and EagI DNA digests were probed with StB12.3. This allowed the detection of the expansion of the CGG repeat of the FMR1 gene and the methylation pattern of the adjacent CpG island. Heterozygotes with delta < or = 400 bp (52/82) were all mentally normal and manifested...

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Source

Identifiers

PMID: 7943014
DOI: 10.1002/ajmg.1320510427

Genes

FMR1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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