| 000 | 01825 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516065458.0 | ||
| 264 | 0 | _c20120517 | |
| 008 | 201205s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2011.128 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPagnamenta, Alistair T | |
| 245 | 0 | 0 |
_aExome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cJan 2012 |
||
| 300 |
_a70-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a1-Alkyl-2-acetylglycerophosphocholine Esterase _xchemistry |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aClassical Lissencephalies and Subcortical Band Heterotopias _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Frequency _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xchemistry |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 700 | 1 | _aLise, Stefano | |
| 700 | 1 | _aHarrison, Victoria | |
| 700 | 1 | _aStewart, Helen | |
| 700 | 1 | _aJayawant, Sandeep | |
| 700 | 1 | _aQuaghebeur, Gerardine | |
| 700 | 1 | _aDeng, Alexander T | |
| 700 | 1 | _aMurphy, Valerie Elizabeth | |
| 700 | 1 | _aSadighi Akha, Elham | |
| 700 | 1 | _aRimmer, Andy | |
| 700 | 1 | _aMathieson, Iain | |
| 700 | 1 | _aKnight, Samantha J L | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aTaylor, Jenny C | |
| 700 | 1 | _aKeays, David A | |
| 773 | 0 |
_tJournal of human genetics _gvol. 57 _gno. 1 _gp. 70-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2011.128 _zAvailable from publisher's website |
| 999 |
_c21355260 _d21355260 |
||