Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
- 1 September 2000
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 26 (1) , 19-20
- https://doi.org/10.1038/79128
Abstract
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones1. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1–q13.3 (ref. 2), which two other groups confirmed3,4. As the human transforming growth factor-β1 gene (TGFB1) is located within this interval5, we considered it a candidate gene for CED.Keywords
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