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
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