Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.

Zhuang, Lei; Gerber, Simon D; Kuchen, Stefan; Villiger, Peter M; Trueb, Beat

Zhuang, Lei; Gerber, Simon D; Kuchen, Stefan; Villiger, Peter M; Trueb, Beat.

Afiliación

Zhuang L; Department of Clinical Research, University of Bern, Murtenstrasse 35, 3008 Bern, Switzerland.
Gerber SD; Institut IMAGINE, 75015 Paris, France.
Kuchen S; Department of Rheumatology, University Hospital, 3010 Bern, Switzerland.
Villiger PM; Department of Rheumatology, University Hospital, 3010 Bern, Switzerland.
Trueb B; Department of Clinical Research, University of Bern, Murtenstrasse 35, 3008 Bern, Switzerland ; Department of Rheumatology, University Hospital, 3010 Bern, Switzerland.

Springerplus ; 5: 71, 2016.

Article en En | MEDLINE | ID: mdl-26839764

Palabras clave

Exostosin-1 (EXT1); Genomic deletion; Glycosyltransferase; Hereditary multiple exostoses (HME); Multiple osteochondromas (MO)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Springerplus Año: 2016 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Suiza

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