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

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

Autor Ueki, Y. Google Scholar
Tiziani, V Google Scholar
Santanna, C. Google Scholar
Fukai, N. Google Scholar
Maulik, C. Google Scholar
Garfinkle, J. Google Scholar
Ninomiya, C. Google Scholar
doAmaral, C. Google Scholar
Peters, H. Google Scholar
Habal, M. Google Scholar
Rhee-Morris, L. Google Scholar
Doss, J. B. Google Scholar
Kreiberg, S. Google Scholar
Olsen, B. R. Google Scholar
Reichenberger, E. Google Scholar
Instituição Harvard Univ
Universidade Federal de São Paulo (UNIFESP)
SOBRAPAR
Humboldt Univ
Tampa Craniofacial Ctr
Univ Calif Davis
So Maine Oral & Maxillofacial Surg
Univ Copenhagen
Resumo Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws(1) followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.
Idioma Inglês
Data de publicação 2001-06-01
Publicado em Nature Genetics. New York: Nature America Inc, v. 28, n. 2, p. 125-126, 2001.
ISSN 1061-4036 (Sherpa/Romeo, fator de impacto)
Publicador Nature America Inc
Extensão 125-126
Fonte http://dx.doi.org/10.1038/88832
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000169011800011
Endereço permanente http://repositorio.unifesp.br/handle/11600/26576

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