Frequency and stability of the fragile X premutation.

doi:10.1093/hmg/3.3.393

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Article

Frequency and stability of the fragile X premutation.

Human molecular genetics - 1 Mar 1994

Reiss A L, Kazazian H H, Krebs C M, McAughan A, Boehm C D, Abrams M T, Nelson D L

Abstract excerpt

Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range,...

Topics

Adolescent
Adult
Aged
Alleles
Blotting, Southern
Child
Female
Fragile X Syndrome
Gene Frequency
Humans
Male
Middle Aged
Mutation
Pedigree
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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