Title : A point mutation in the FMR-1 gene associated with fragile X mental retardation.

Pub. Date : 1993 Jan

PMID : 8490650






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5" fragile X gene (FMR-1) at the molecular level. Folic Acid fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens