| 000 | 01739 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250514063322.0 | ||
| 264 | 0 | _c20040123 | |
| 008 | 200401s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/ddg097 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJobard, Florence | |
| 245 | 0 | 0 |
_aIdentification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cApr 2003 |
||
| 300 |
_a925-35 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBlood Proteins _xgenetics |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Proteins |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNeoplasm Proteins |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 |
_aPhotosensitivity Disorders _xgenetics |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 |
_aSkin Diseases _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aBouadjar, Bakar | |
| 700 | 1 | _aCaux, Frédéric | |
| 700 | 1 | _aHadj-Rabia, Smail | |
| 700 | 1 | _aHas, Christina | |
| 700 | 1 | _aMatsuda, Fumi | |
| 700 | 1 | _aWeissenbach, Jean | |
| 700 | 1 | _aLathrop, Mark | |
| 700 | 1 | _aPrud'homme, Jean-François | |
| 700 | 1 | _aFischer, Judith | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 12 _gno. 8 _gp. 925-35 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddg097 _zAvailable from publisher's website |
| 999 |
_c12461776 _d12461776 |
||