Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
Nat Genet
; 26(3): 273-5, 2000 Nov.
Article
em En
| MEDLINE
| ID: mdl-11062463
ABSTRACT
Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fragmentos de Peptídeos
/
Precursores de Proteínas
/
Cromossomos Humanos Par 19
/
Sinais Direcionadores de Proteínas
/
Fator de Crescimento Transformador beta
/
Síndrome de Camurati-Engelmann
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article