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Article

Immunohistochemical FMRP studies in a full mutated female fetus.

American journal of medical genetics. Part A - 15 Jan 2004

Rifé M, Nadal A, Milà M, Willemsen R

Abstract excerpt

Fragile X syndrome (FXS) is the most common form of inherited mental retardation. Clinical manifestations are due to the absence of the FMRP protein. Affected patients have widely variable phenotypes which are more variable in females than males, presumable due to X inactivation. We report the expression pattern of FMRP in cerebral cortex and ovary in a control and a full-mutated female fetus. FMRP was expressed...

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Source

Identifiers

PMID: 14699609
DOI: 10.1002/ajmg.a.20342

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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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