Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33188/fullpdf
Reference91 articles.
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3. A novel form of FGF receptor-3 using an alternative exon in the immunoglobulin domain III;Avivi;FEBS Lett,1993
4. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995a
5. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995b
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