| 000 | 01566 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515042022.0 | ||
| 264 | 0 | _c20061214 | |
| 008 | 200612s 0 0 eng d | ||
| 022 | _a1523-1747 | ||
| 024 | 7 |
_a10.1038/sj.jid.5700553 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aChassaing, Nicolas | |
| 245 | 0 | 0 |
_aGeneralized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. _h[electronic resource] |
| 260 |
_bThe Journal of investigative dermatology _cDec 2006 |
||
| 300 |
_a2715-7 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGlutamic Acid |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperkeratosis, Epidermolytic _xdiagnosis |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aIsoleucine |
| 650 | 0 | 4 |
_aKeratin-1 _xgenetics |
| 650 | 0 | 4 |
_aKeratin-10 _xgenetics |
| 650 | 0 | 4 | _aLysine |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenylalanine |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 700 | 1 | _aKanitakis, Jean | |
| 700 | 1 | _aSportich, Stéphanie | |
| 700 | 1 | _aCordier-Alex, Marie-Pierre | |
| 700 | 1 | _aTiteux, Matthias | |
| 700 | 1 | _aCalvas, Patrick | |
| 700 | 1 | _aClaudy, Alain | |
| 700 | 1 | _aBerbis, P | |
| 700 | 1 | _aHovnanian, Alain | |
| 773 | 0 |
_tThe Journal of investigative dermatology _gvol. 126 _gno. 12 _gp. 2715-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.jid.5700553 _zAvailable from publisher's website |
| 999 |
_c16569371 _d16569371 |
||