| 000 | 01506 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514180844.0 | ||
| 264 | 0 | _c20040325 | |
| 008 | 200403s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCoupry, Isabelle | |
| 245 | 0 | 0 |
_aAnalysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. _h[electronic resource] |
| 260 |
_bHuman mutation _cMar 2004 |
||
| 300 |
_a278-84 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Validation Study | ||
| 650 | 0 | 4 | _aCREB-Binding Protein |
| 650 | 0 | 4 | _aComputer Systems |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 |
_aGenetic Markers _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aRubinstein-Taybi Syndrome _xgenetics |
| 650 | 0 | 4 |
_aTrans-Activators _xgenetics |
| 700 | 1 | _aMonnet, Laurence | |
| 700 | 1 | _aAttia, Azza Abd El Moneim | |
| 700 | 1 | _aTaine, Laurence | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aArveiler, Benoît | |
| 773 | 0 |
_tHuman mutation _gvol. 23 _gno. 3 _gp. 278-84 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20001 _zAvailable from publisher's website |
| 999 |
_c14695853 _d14695853 |
||