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folate-sensitive fragile site FRA10A expression
Epidemiology:
- rare
Pathology:
- chromosomal breakage under specific cell culture conditions
Genetics:
- expansion of a polymorphic CGG repeat within 5'UTR of FRA10AC1 gene
Clinical manifestations:
1) no distinct phenotype has been associated with expression of FRA10A
2) suggested mental retardation, tumorigenesis, neurological disorders
General
genetic syndrome (multisystem disorder)
References
UniProt :accession Q70Z53