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1998 | 1 |
2013 | 1 |
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A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
Hum Mutat. 1998;11(4):333. doi: 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G.
Hum Mutat. 1998.
PMID: 10215410
Fibroblast growth factor signaling in skeletal development and disease.
Ornitz DM, Marie PJ.
Ornitz DM, et al.
Genes Dev. 2015 Jul 15;29(14):1463-86. doi: 10.1101/gad.266551.115.
Genes Dev. 2015.
PMID: 26220993
Free PMC article.
Review.
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Structural mimicry of a-loop tyrosine phosphorylation by a pathogenic FGF receptor 3 mutation.
Huang Z, Chen H, Blais S, Neubert TA, Li X, Mohammadi M.
Huang Z, et al.
Structure. 2013 Oct 8;21(10):1889-96. doi: 10.1016/j.str.2013.07.017. Epub 2013 Aug 22.
Structure. 2013.
PMID: 23972473
Free PMC article.
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FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR.
Xue Y, et al.
Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5.
Mol Genet Genomic Med. 2014.
PMID: 25614871
Free PMC article.
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