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Details on Person Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Class:IdLiteratureReference:2033246
_displayNameGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
_timestamp2012-01-09 03:51:06
author[Person:2033115] Kan, SH
[Person:2033094] Elanko, N
[Person:2033113] Johnson, D
[Person:2033085] Cornejo-Roldan, L
[Person:2033083] Cook, J
[Person:2033165] Reich, EW
[Person:2033194] Tomkins, S
[Person:2033206] Verloes, A
[Person:2033203] Twigg, SR
[Person:2033160] Rannan-Eliya, S
[Person:2033144] McDonald-McGinn, DM
[Person:2033237] Zackai, EH
[Person:2033209] Wall, SA
[Person:2023272] Muenke, M
[Person:1008205] Wilkie, AO
created[InstanceEdit:2033250] Rothfels, K, 2012-01-09
journalAm J Hum Genet
pages472-86
pubMedIdentifier11781872
titleGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
volume70
year2002
(literatureReference)[Reaction:2023460] Autocatalytic phosphorylation of FGFR1 mutants with enhanced kinase activity [Homo sapiens]
[Reaction:2033479] Dimerization of FGFR2 point mutants with enhanced kinase activity [Homo sapiens]
[Reaction:2033490] Autocatalytic phosphorylation of FGFR2 point mutants with enhanced kinase activity [Homo sapiens]
[EntityWithAccessionedSequence:1637905] FGFR2 K660N [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2033296] FGFR2 N549H [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:2033304] p-8Y-FGFR2 N549H [plasma membrane] [Homo sapiens]
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