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Article

Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.

American journal of medical genetics. Part A - 30 Apr 2004

Machado-Ferreira Maria do Carmo, Costa-Lima Marcelo A, Boy Raquel T, Esteves Gabriela S, Pimentel Márcia M G

Abstract excerpt

Fragile X syndrome (FRAXA) is the most common form of inherited mental retardation (MR). The mutational mechanism leading to the disease involves an expansion of a trinucleotide repeat located at the 5' UTR region of the gene FMR-1. Four types of alleles can be identified in the population, based...

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Share to Chromosome Segregation
Share to Chromosomes, Human, X
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

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Share to Primary Ovarian Insufficiency

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Source

Identifiers

PMID: 15054835
DOI: 10.1002/ajmg.a.20585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15054835-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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