| 000 | 02654 a2200889 4500 | ||
|---|---|---|---|
| 005 | 20250514022355.0 | ||
| 264 | 0 | _c20020306 | |
| 008 | 200203s 0 0 eng d | ||
| 022 | _a1061-4036 | ||
| 024 | 7 |
_a10.1038/ng821 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBoerkoel, Cornelius F | |
| 245 | 0 | 0 |
_aMutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. _h[electronic resource] |
| 260 |
_bNature genetics _cFeb 2002 |
||
| 300 |
_a215-20 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 |
_aDNA Helicases _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunologic Deficiency Syndromes _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRenal Insufficiency _xgenetics |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 | _aSpecies Specificity |
| 650 | 0 | 4 |
_aT-Lymphocytes _ximmunology |
| 700 | 1 | _aTakashima, Hiroshi | |
| 700 | 1 | _aJohn, Joy | |
| 700 | 1 | _aYan, Jiong | |
| 700 | 1 | _aStankiewicz, Pawel | |
| 700 | 1 | _aRosenbarker, Lisa | |
| 700 | 1 | _aAndré, Jean-Luc | |
| 700 | 1 | _aBogdanovic, Radovan | |
| 700 | 1 | _aBurguet, Antoine | |
| 700 | 1 | _aCockfield, Sandra | |
| 700 | 1 | _aCordeiro, Isabel | |
| 700 | 1 | _aFründ, Stefan | |
| 700 | 1 | _aIllies, Friederike | |
| 700 | 1 | _aJoseph, Mark | |
| 700 | 1 | _aKaitila, Ilkka | |
| 700 | 1 | _aLama, Giuliana | |
| 700 | 1 | _aLoirat, Chantal | |
| 700 | 1 | _aMcLeod, D Ross | |
| 700 | 1 | _aMilford, David V | |
| 700 | 1 | _aPetty, Elizabeth M | |
| 700 | 1 | _aRodrigo, Francisco | |
| 700 | 1 | _aSaraiva, Jorge M | |
| 700 | 1 | _aSchmidt, Beate | |
| 700 | 1 | _aSmith, Graham C | |
| 700 | 1 | _aSpranger, Jürgen | |
| 700 | 1 | _aStein, Anja | |
| 700 | 1 | _aThiele, Hannelore | |
| 700 | 1 | _aTizard, Jane | |
| 700 | 1 | _aWeksberg, Rosanna | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aStockton, David W | |
| 773 | 0 |
_tNature genetics _gvol. 30 _gno. 2 _gp. 215-20 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng821 _zAvailable from publisher's website |
| 999 |
_c11710343 _d11710343 |
||