Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis

Journal of Bone and Mineral Research

Volumn 18, Issue 2, 2003, Pages 376-380

  Johnson Pais, Teresa L ^a   Singer, Frederick R ^b   Bone, Henry G ^c   McMurray, Cynthia T ^d   Hansen, Marc F ^e   Leach, Robin J ^f  

^a Mays Cancer Center at UT Health San Antonio   (United States)

^b JOHN WAYNE CANCER INSTITUTE   (United States)

^c Michigan Bone and Mineral Clinic   (United States)

^d MAYO CLINIC   (United States)

^e UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^f UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

Familial expansile osteolysis; Receptor activator of nuclear factor B; Secondary structure; Tandem duplication; TNFRSF11A

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; BONE ATROPHY; BONE PAIN; BONE REMODELING; CASE REPORT; CELL DIFFERENTIATION; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENE TNFRSF11A; HEARING LOSS; HUMAN; HUMERUS; OSTEOCLAST; OSTEOLYSIS; OSTEOPENIA; PHALANX; SIGNAL TRANSDUCTION; TANDEM REPEAT; TOOTH DISEASE;

AGED; AMINO ACID SEQUENCE; AMINO ACIDS; BASE SEQUENCE; BONE AND BONES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; GLYCOPROTEINS; HEARING LOSS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NF-KAPPA B; OSTEOLYSIS; OSTEOPROTEGERIN; PROTEIN SORTING SIGNALS; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, TUMOR NECROSIS FACTOR; SIGNAL TRANSDUCTION;

EID: 0037304062     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2003.18.2.376     Document Type: Article

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