Phenotypic variation and FMRP levels in fragile X.

doi:10.1002/mrdd.20006

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Article

Phenotypic variation and FMRP levels in fragile X.

Mental retardation and developmental disabilities research reviews - 1 Jan 2004

Loesch Danuta Z, Huggins Richard M, Hagerman Randi J

Abstract excerpt

Data on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene-specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associations in males between FMRP levels and the Wechsler...

Topics

Cognition Disorders
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Intellectual Disability
Male
Nerve Tissue Proteins
Pedigree
Phenotype
RNA-Binding Proteins
Wechsler Scales

Source

Open in PubMed

Identifiers

PMID: 14994286
DOI: 10.1002/mrdd.20006

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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