| 000 | 01868 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250518004717.0 | ||
| 264 | 0 | _c20200731 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1365-2133 | ||
| 024 | 7 |
_a10.1111/bjd.17388 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMaruthappu, T | |
| 245 | 0 | 0 |
_aLoss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. _h[electronic resource] |
| 260 |
_bThe British journal of dermatology _c05 2019 |
||
| 300 |
_a1114-1122 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aAged, 80 and over |
| 650 | 0 | 4 |
_aCardiomyopathies _xdiagnosis |
| 650 | 0 | 4 | _aCardiomyopathy, Dilated |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDesmoplakins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHair Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aHeart _xdiagnostic imaging |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKeratoderma, Palmoplantar _xdiagnosis |
| 650 | 0 | 4 | _aLoss of Function Mutation |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProtein Isoforms _xgenetics |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aPosafalvi, A | |
| 700 | 1 | _aCastelletti, S | |
| 700 | 1 | _aDelaney, P J | |
| 700 | 1 | _aSyrris, P | |
| 700 | 1 | _aO'Toole, E A | |
| 700 | 1 | _aGreen, K J | |
| 700 | 1 | _aElliott, P M | |
| 700 | 1 | _aLambiase, P D | |
| 700 | 1 | _aTinker, A | |
| 700 | 1 | _aMcKenna, W J | |
| 700 | 1 | _aKelsell, D P | |
| 773 | 0 |
_tThe British journal of dermatology _gvol. 180 _gno. 5 _gp. 1114-1122 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/bjd.17388 _zAvailable from publisher's website |
| 999 |
_c28999175 _d28999175 |
||