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

Human Molecular Genetics

Volumn 17, Issue 5, 2008, Pages 631-641

  Farrington Rock, Claire ^a   Kirilova, Veneta ^a   Dillard Telm, Lisa ^b   Borowsky, Alexander D ^b   Chalk, Sara ^b   Rock, Matthew J ^a   Cohn, Daniel H ^a,c   Krakow, Deborah ^a,c  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN B; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; CARPAL BONE; CERVICAL SPINE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE DISRUPTION; GENE MUTATION; MALE; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SHORT STATURE; SKELETON MALFORMATION; SPINE FUSION; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; STERNUM; THORACIC SPINE; VERTEBRA BODY;

ABNORMALITIES, MULTIPLE; ANIMALS; ANIMALS, NEWBORN; ANKLE; CODON, NONSENSE; CONTRACTILE PROTEINS; CROSSES, GENETIC; DIMERIZATION; DISEASE MODELS, ANIMAL; EMBRYO, MAMMALIAN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; METACARPUS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROFILAMENT PROTEINS; MODELS, BIOLOGICAL; MODELS, GENETIC; MOLECULAR WEIGHT; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SPINE; SYNDROME; SYNOSTOSIS;

MUS;

EID: 39749100687     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm188     Document Type: Article

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