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Article

Premature ovarian failure and FMR1 premutation co-segregation in a large Brazilian family.

International journal of molecular medicine - 1 Aug 2002

Machado-Ferreira M C, Costa-Lima M A, Boy R T, Esteves G S, Pimentel M M G

Abstract excerpt

Fragile X syndrome is the most common form of inherited mental retardation in men. The molecular mechanism underlying the disease is an amplification of a polymorphic trinucleotide repeat (CGG)n located at 5' end of FMR1 which promotes transcriptional silencing of the gene. Four different classes of alleles could be distinguished in the population based on the size of the repeat, however only large amplifications...

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Source

Identifiers

PMID: 12119565
DOI: 10.3892/ijmm.10.2.231

Genes

FMR1

Provenance

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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