| 000 | 01237 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516161618.0 | ||
| 264 | 0 | _c20140827 | |
| 008 | 201408s 0 0 eng d | ||
| 022 | _a1365-2133 | ||
| 024 | 7 |
_a10.1111/bjd.12522 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBarzegar, M | |
| 245 | 0 | 0 |
_aA new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome. _h[electronic resource] |
| 260 |
_bThe British journal of dermatology _cDec 2013 |
||
| 300 |
_a1353-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aConjunctival Diseases |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLaminin _xgenetics |
| 650 | 0 | 4 | _aLaryngeal Diseases |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aMozafari, N | |
| 700 | 1 | _aKariminejad, A | |
| 700 | 1 | _aAsadikani, Z | |
| 700 | 1 | _aOzoemena, L | |
| 700 | 1 | _aMcGrath, J A | |
| 773 | 0 |
_tThe British journal of dermatology _gvol. 169 _gno. 6 _gp. 1353-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/bjd.12522 _zAvailable from publisher's website |
| 999 |
_c22931566 _d22931566 |
||