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Article

[New methods for the diagnosis of fragile X syndrome: a study of the FMRP in blood and hair].

Revista de neurologia - 1 Oct 2001

Ramos-Fuentes F J

Abstract excerpt

INTRODUCTION: Fragile X syndrome (FXS) is the commonest cause of hereditary mental retardation. Although most affected patients, especially males, have a typical phenotype, molecular studies of the FMR1 gene are necessary to confirm the diagnosis, depending on the number of repeats of the CGG triplet of the gene. DEVELOPMENT: In recent years an immunohistochemical technique has been developed which permits the...

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Share to Chromosomes, Human, X
Share to Fragile X Mental Retardation Protein
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12447812

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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FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.Semantic proximity Read ↗

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