| 000 | 01384 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250517021706.0 | ||
| 264 | 0 | _c20160623 | |
| 008 | 201606s 0 0 eng d | ||
| 022 | _a1365-2230 | ||
| 024 | 7 |
_a10.1111/ced.12627 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOrtega-Recalde, O | |
| 245 | 0 | 0 |
_aA novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. _h[electronic resource] |
| 260 |
_bClinical and experimental dermatology _cOct 2015 |
||
| 300 |
_a757-60 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosiform Erythroderma, Congenital _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aTransglutaminases _xgenetics |
| 700 | 1 | _aMoreno, M B | |
| 700 | 1 | _aVergara, J I | |
| 700 | 1 | _aFonseca, D J | |
| 700 | 1 | _aRojas, R F | |
| 700 | 1 | _aMosquera, H | |
| 700 | 1 | _aMedina, C L | |
| 700 | 1 | _aRestrepo, C M | |
| 700 | 1 | _aLaissue, P | |
| 773 | 0 |
_tClinical and experimental dermatology _gvol. 40 _gno. 7 _gp. 757-60 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/ced.12627 _zAvailable from publisher's website |
| 999 |
_c24692079 _d24692079 |
||