Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Farrington-Rock, Claire

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. [electronic resource] - Human molecular genetics Mar 2008 - 631-41 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddm188 doi


Abnormalities, Multiple--genetics
Animals
Animals, Newborn
Ankle--abnormalities
Codon, Nonsense
Contractile Proteins--chemistry
Crosses, Genetic
Dimerization
Disease Models, Animal
Embryo, Mammalian
Filamins
Gene Expression Regulation, Developmental
Genes, Recessive
Heterozygote
Homozygote
Humans
Metacarpus--abnormalities
Mice
Mice, Inbred C57BL
Mice, Knockout
Microfilament Proteins--chemistry
Models, Biological
Models, Genetic
Molecular Weight
Mutation
Osteochondrodysplasias--genetics
Phenotype
Protein Structure, Tertiary
Spine--abnormalities
Syndrome
Synostosis--genetics