Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Nature Genetics

Volumn 28, Issue 2, 2001, Pages 125-126

  Ueki, Yasuyoshi ^a   Tiziani, Valdenize ^a,b   Santanna, Carla ^a   Fukai, Naomi ^a   Maulik, Chris ^a   Garfinkle, Judah ^a   Ninomiya, Chisho ^a   Doamaral, Cassio ^b   Peters, Hartmut ^c   Habal, Mutaz ^d   Rhee Morris, Laila ^e   Doss, Jeffrey B ^f   Kreiborg, Sven ^g   Olsen, Bjorn R ^a   Reichenberger, Ernst ^a  

^a FORSYTH INSTITUTE   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c HUMBOLDT UNIVERSITY   (Germany)

^d Tampa Bay Craniofacial Center   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f Southern Maine Oral and Maxillofacial Surgery   (United States)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEFECT; CHROMOSOME 4P; FIBROUS DYSPLASIA; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SKULL DEFECT; STROMA CELL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CARRIER PROTEINS; CHERUBISM; HAPLOTYPES; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MUTATION; PEDIGREE; PROTO-ONCOGENE PROTEINS C-ABL; STROMAL CELLS;

EID: 0034977079     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/88832     Document Type: Article

References (8)