| 000 | 01692 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515023300.0 | ||
| 264 | 0 | _c20060801 | |
| 008 | 200608s 0 0 eng d | ||
| 022 | _a0022-202X | ||
| 024 | 7 |
_a10.1038/sj.jid.5700291 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNorgett, Elizabeth E | |
| 245 | 0 | 0 |
_aEarly death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. _h[electronic resource] |
| 260 |
_bThe Journal of investigative dermatology _cJul 2006 |
||
| 300 |
_a1651-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAmino Acids _xanalysis |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCardiomyopathies _xgenetics |
| 650 | 0 | 4 |
_aDNA _xanalysis |
| 650 | 0 | 4 |
_aDesmoplakins _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 |
_aHair Diseases _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKeratoderma, Palmoplantar _xcomplications |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutagenesis, Insertional |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 650 | 0 | 4 |
_aVentricular Dysfunction, Left _xphysiopathology |
| 700 | 1 | _aLucke, Tom W | |
| 700 | 1 | _aBowers, Bill | |
| 700 | 1 | _aMunro, Colin S | |
| 700 | 1 | _aLeigh, Irene M | |
| 700 | 1 | _aKelsell, David P | |
| 773 | 0 |
_tThe Journal of investigative dermatology _gvol. 126 _gno. 7 _gp. 1651-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.jid.5700291 _zAvailable from publisher's website |
| 999 |
_c16232319 _d16232319 |
||