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Article

Timing of the absence of FMR1 expression in full mutation chorionic villi.

Human genetics - 1 Jun 2002

Willemsen Rob, Bontekoe Carola J M, Severijnen Lies-Anne, Oostra Ben A

Abstract excerpt

Fragile X syndrome is caused by the expansion of the CGG repeat in the 5' untranslated region of the FMR1 gene. This expansion leads to methylation of the FMR1 promoter region thereby blocking FMR1 protein (FMRP) expression. Prenatal diagnosis can be performed on chorionic villi samples (CVS) by Southern blot analysis. Alternatively, for males, an immunohistochemical method has been introduced for CVS. In this...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12107447
DOI: 10.1007/s00439-002-0723-5

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.

Related research

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Timing of the absence of FMR1 expression in full mutation chorionic villi.PMID 12107447Read ↗

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