| 000 | 01527 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250515114844.0 | ||
| 264 | 0 | _c20080701 | |
| 008 | 200807s 0 0 eng d | ||
| 022 | _a1525-1578 | ||
| 024 | 7 |
_a10.2353/jmoldx.2008.070163 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCecconi, Massimiliano | |
| 245 | 0 | 0 |
_aA single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. _h[electronic resource] |
| 260 |
_bThe Journal of molecular diagnostics : JMD _cMay 2008 |
||
| 300 |
_a272-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFragile X Mental Retardation Protein _xgenetics |
| 650 | 0 | 4 |
_aFragile X Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aTrinucleotide Repeats _xgenetics |
| 700 | 1 | _aForzano, Francesca | |
| 700 | 1 | _aRinaldi, Rosanna | |
| 700 | 1 | _aCappellacci, Sandra | |
| 700 | 1 | _aGrammatico, Paola | |
| 700 | 1 | _aFaravelli, Francesca | |
| 700 | 1 | _aDagna Bricarelli, Franca | |
| 700 | 1 | _aDi Maria, Emilio | |
| 700 | 1 | _aGrasso, Marina | |
| 773 | 0 |
_tThe Journal of molecular diagnostics : JMD _gvol. 10 _gno. 3 _gp. 272-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.2353/jmoldx.2008.070163 _zAvailable from publisher's website |
| 999 |
_c17902053 _d17902053 |
||