TY  - GEN
AU  - Cecconi,Massimiliano
AU  - Forzano,Francesca
AU  - Rinaldi,Rosanna
AU  - Cappellacci,Sandra
AU  - Grammatico,Paola
AU  - Faravelli,Francesca
AU  - Dagna Bricarelli,Franca
AU  - Di Maria,Emilio
AU  - Grasso,Marina
TI  - A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype
SN  - 1525-1578
PY  - 2008///0701
KW  - Aged
KW  - Child
KW  - DNA Mutational Analysis
KW  - Female
KW  - Fragile X Mental Retardation Protein
KW  - genetics
KW  - Fragile X Syndrome
KW  - diagnosis
KW  - Humans
KW  - Male
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Deletion
KW  - Trinucleotide Repeats
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.2353/jmoldx.2008.070163
ER  -