| 000 | 01704 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517113954.0 | ||
| 264 | 0 | _c20170524 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2016.113 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBenito-Sanz, Sara | |
| 245 | 0 | 0 |
_aIdentification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cFeb 2017 |
||
| 300 |
_a229-234 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Review | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aGene Duplication _xgenetics |
| 650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 | _aMultiplex Polymerase Chain Reaction |
| 650 | 0 | 4 | _aNucleic Acid Amplification Techniques |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 650 | 0 | 4 | _aShort Stature Homeobox Protein |
| 700 | 1 | _aBelinchon-Martínez, Alberta | |
| 700 | 1 | _aAza-Carmona, Miriam | |
| 700 | 1 | _ade la Torre, Carolina | |
| 700 | 1 | _aHuber, Celine | |
| 700 | 1 | _aGonzález-Casado, Isabel | |
| 700 | 1 | _aRoss, Judith L | |
| 700 | 1 | _aThomas, N Simon | |
| 700 | 1 | _aZinn, Andrew R | |
| 700 | 1 | _aCormier-Daire, Valerie | |
| 700 | 1 | _aHeath, Karen E | |
| 773 | 0 |
_tJournal of human genetics _gvol. 62 _gno. 2 _gp. 229-234 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2016.113 _zAvailable from publisher's website |
| 999 |
_c26398073 _d26398073 |
||