G.A. Bellus
Department of Dermatology
University of Colorado School of Medicine
Denver
CO 80262
USA
Name/email consistency: high
- Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Bellus, G.A., Spector, E.B., Speiser, P.W., Weaver, C.A., Garber, A.T., Bryke, C.R., Israel, J., Rosengren, S.S., Webster, M.K., Donoghue, D.J., Francomano, C.A. Am. J. Hum. Genet. (2000)
- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Bellus, G.A., Bamshad, M.J., Przylepa, K.A., Dorst, J., Lee, R.R., Hurko, O., Jabs, E.W., Curry, C.J., Wilcox, W.R., Lachman, R.S., Rimoin, D.L., Francomano, C.A. Am. J. Med. Genet. (1999)