TY - GEN AU - Farrington-Rock,Claire AU - Kirilova,Veneta AU - Dillard-Telm,Lisa AU - Borowsky,Alexander D AU - Chalk,Sara AU - Rock,Matthew J AU - Cohn,Daniel H AU - Krakow,Deborah TI - Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome SN - 1460-2083 PY - 2008///0314 KW - Abnormalities, Multiple KW - genetics KW - Animals KW - Animals, Newborn KW - Ankle KW - abnormalities KW - Codon, Nonsense KW - Contractile Proteins KW - chemistry KW - Crosses, Genetic KW - Dimerization KW - Disease Models, Animal KW - Embryo, Mammalian KW - Filamins KW - Gene Expression Regulation, Developmental KW - Genes, Recessive KW - Heterozygote KW - Homozygote KW - Humans KW - Metacarpus KW - Mice KW - Mice, Inbred C57BL KW - Mice, Knockout KW - Microfilament Proteins KW - Models, Biological KW - Models, Genetic KW - Molecular Weight KW - Mutation KW - Osteochondrodysplasias KW - Phenotype KW - Protein Structure, Tertiary KW - Spine KW - Syndrome KW - Synostosis N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1093/hmg/ddm188 ER -