000 | 01226 a2200325 4500 | ||
---|---|---|---|
005 | 20250515192042.0 | ||
264 | 0 | _c20100312 | |
008 | 201003s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.21129 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMannini, Linda | |
245 | 0 | 0 |
_aSpectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. _h[electronic resource] |
260 |
_bHuman mutation _cJan 2010 |
||
300 |
_a5-10 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review | ||
650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xgenetics |
650 | 0 | 4 |
_aColorectal Neoplasms _xgenetics |
650 | 0 | 4 |
_aDe Lange Syndrome _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aCohesins |
650 | 0 | 4 | _aStructural Maintenance of Chromosome Protein 1 |
700 | 1 | _aLiu, Jinglan | |
700 | 1 | _aKrantz, Ian D | |
700 | 1 | _aMusio, Antonio | |
773 | 0 |
_tHuman mutation _gvol. 31 _gno. 1 _gp. 5-10 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21129 _zAvailable from publisher's website |
999 |
_c19233961 _d19233961 |