A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Cecconi, Massimiliano

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. [electronic resource] - The Journal of molecular diagnostics : JMD May 2008 - 272-5 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1525-1578

10.2353/jmoldx.2008.070163 doi


Aged
Child
DNA Mutational Analysis
Female
Fragile X Mental Retardation Protein--genetics
Fragile X Syndrome--diagnosis
Humans
Male
Polymorphism, Single Nucleotide
Sequence Deletion
Trinucleotide Repeats--genetics