Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone

Journal of Bone and Mineral Research

Volumn 18, Issue 10, 2003, Pages 1748-1753

  Johnson Pais, Teresa L ^a,b   Wisdom, Julie H ^b   Weldon, Korri S ^b   Cody, Jannine D ^a   Hansen, Marc F ^c   Singer, Frederick R ^d   Leach, Robin J ^a,b  

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

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

^c UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^d JOHN WAYNE CANCER INSTITUTE   (United States)

Author keywords

NF B; Osteoclasts; Paget's disease of bone; Sequestosome 1; Ubiquitin associated domain

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; UBIQUITIN;

ADULT; ARTICLE; BONE REMODELING; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 5Q; CLINICAL ARTICLE; DNA ISOLATION; EXON; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; OSTEOCLAST; PAGET BONE DISEASE; SEQUESTOSOME 1 GENE; STOP CODON;

ALTERNATIVE SPLICING; BASE SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NF-KAPPA B; OSTEITIS DEFORMANS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEINS; UBIQUITIN;

EID: 0142148013     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2003.18.10.1748     Document Type: Article

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