FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes.

doi:10.1007/s004399900081

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Article

FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes.

Human genetics - 1 Jan 2000

Yeshaya J, Shalgi R, Shohat M, Avivi L

Abstract excerpt

X-chromosome inactivation and the size of the CGG repeat number are assumed to play a role in the clinical, physical, and behavioral phenotype of female carriers of a mutated FMR1 allele. In view of the tight relationship between replication timing and the expression of a given DNA sequence, we have examined the replication timing of FMR1 alleles on active and inactive X-chromosomes in cell samples (lymphocytes...

Topics

Adolescent
Adult
Alleles
Amniotic Fluid
DNA Replication
Dosage Compensation, Genetic
Female
Fragile X Mental Retardation Protein
Genetic Testing
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Lymphocytes
Models, Genetic
Mutation
Nerve Tissue Proteins
RNA-Binding Proteins
X Chromosome

Source

Open in PubMed

Identifiers

PMID: 10480360
DOI: 10.1007/s004399900081

Genes

FMR1

Provenance

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

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