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