| 000 | 01560 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515044255.0 | ||
| 264 | 0 | _c20070329 | |
| 008 | 200703s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201719 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGimelli, Giorgio | |
| 245 | 0 | 0 |
_aIdentification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2007 |
||
| 300 |
_a76-80 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, sry |
| 650 | 0 | 4 |
_aGonadal Dysgenesis, 46,XY _xgenetics |
| 650 | 0 | 4 | _aHMG-Box Domains |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 |
_aSex-Determining Region Y Protein _xchemistry |
| 700 | 1 | _aGimelli, Stefania | |
| 700 | 1 | _aDimasi, Nazzareno | |
| 700 | 1 | _aBocciardi, Renata | |
| 700 | 1 | _aDi Battista, Eliana | |
| 700 | 1 | _aPramparo, Tiziano | |
| 700 | 1 | _aZuffardi, Orsetta | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 15 _gno. 1 _gp. 76-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201719 _zAvailable from publisher's website |
| 999 |
_c16637942 _d16637942 |
||