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Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, The Netherlands.
PMID: 9452043 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
Chen H, Ma J, Li W, Eliseenkova AV, Xu C, Neubert TA, Miller WT, Mohammadi M.
Mol Cell. 2007 Sep 7; 27(5):717-30.
[Mol Cell. 2007]
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Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.
Rand V, Huang J, Stockwell T, Ferriera S, Buzko O, Levy S, Busam D, Li K, Edwards JB, Eberhart C, et al.
Proc Natl Acad Sci U S A. 2005 Oct 4; 102(40):14344-9. Epub 2005 Sep 26.
[Proc Natl Acad Sci U S A. 2005]
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Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, et al.
Am J Hum Genet. 2000 Dec; 67(6):1411-21. Epub 2000 Oct 27.
[Am J Hum Genet. 2000]