TY  - GEN
AU  - Mannini,Linda
AU  - Liu,Jinglan
AU  - Krantz,Ian D
AU  - Musio,Antonio
TI  - Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease
SN  - 1098-1004
PY  - 2010///0312
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Chromosomal Proteins, Non-Histone
KW  - Colorectal Neoplasms
KW  - De Lange Syndrome
KW  - Humans
KW  - Mutation
KW  - Cohesins
KW  - Structural Maintenance of Chromosome Protein 1
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/humu.21129
ER  -