| 000 | 01558 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515091924.0 | ||
| 264 | 0 | _c20080219 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a1523-1747 | ||
| 024 | 7 |
_a10.1038/sj.jid.5700987 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJouary, Thomas | |
| 245 | 0 | 0 |
_aDetection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. _h[electronic resource] |
| 260 |
_bThe Journal of investigative dermatology _cFeb 2008 |
||
| 300 |
_a322-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCathepsin C _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aPapillon-Lefevre Disease _xdiagnosis |
| 700 | 1 | _aGoizet, Cyril | |
| 700 | 1 | _aCoupry, Isabelle | |
| 700 | 1 | _aRedonnet-Vernhet, Isabelle | |
| 700 | 1 | _aLevade, Thierry | |
| 700 | 1 | _aBurgelin, Ingrid | |
| 700 | 1 | _aToutain, Annick | |
| 700 | 1 | _aDelaporte, Emmanuel | |
| 700 | 1 | _aDouillard, Claire | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aTaieb, Alain | |
| 700 | 1 | _aArveiler, Benoît | |
| 773 | 0 |
_tThe Journal of investigative dermatology _gvol. 128 _gno. 2 _gp. 322-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.jid.5700987 _zAvailable from publisher's website |
| 999 |
_c17463408 _d17463408 |
||