| 000 | 02488 a2200781 4500 | ||
|---|---|---|---|
| 005 | 20250515102745.0 | ||
| 264 | 0 | _c20080226 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.2007.80 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGriffith, Elen | |
| 245 | 0 | 0 |
_aMutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. _h[electronic resource] |
| 260 |
_bNature genetics _cFeb 2008 |
||
| 300 |
_a232-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAntigens _xchemistry |
| 650 | 0 | 4 | _aAtaxia Telangiectasia Mutated Proteins |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 22 |
| 650 | 0 | 4 | _aCodon |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Damage |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 |
_aLymphocytes _xmetabolism |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aModels, Biological |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMolecular Weight |
| 650 | 0 | 4 | _aMutagenesis, Insertional |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPhysical Chromosome Mapping |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aProtein Isoforms _xchemistry |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aRNA Interference |
| 650 | 0 | 4 |
_aRNA, Small Interfering _xmetabolism |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSignal Transduction _xgenetics |
| 700 | 1 | _aWalker, Sarah | |
| 700 | 1 | _aMartin, Carol-Anne | |
| 700 | 1 | _aVagnarelli, Paola | |
| 700 | 1 | _aStiff, Tom | |
| 700 | 1 | _aVernay, Bertrand | |
| 700 | 1 | _aAl Sanna, Nouriya | |
| 700 | 1 | _aSaggar, Anand | |
| 700 | 1 | _aHamel, Ben | |
| 700 | 1 | _aEarnshaw, William C | |
| 700 | 1 | _aJeggo, Penny A | |
| 700 | 1 | _aJackson, Andrew P | |
| 700 | 1 | _aO'Driscoll, Mark | |
| 773 | 0 |
_tNature genetics _gvol. 40 _gno. 2 _gp. 232-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.2007.80 _zAvailable from publisher's website |
| 999 |
_c17668521 _d17668521 |
||