Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995a
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nature Genet,1995b
3. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p;Francomano;Hum Mol Genet,1994
4. Hypochondroplasia: Clinical and radiological aspects in 39 cases;Hall;Radiology,1979
5. Point mutation screening for 16 exons of the Dystrophin gene by multiplex single-strand conformation polymorphism analysis;Kneppers;Hum Mutat,1995
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