Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.7.10.1 extracted from

  • Muenke, M.; Gripp, K.W.; McDonald-McGinn, D.M.; Gaudenz, K.; Whitaker, L.A.; Bartlett, S.P.; Markowitz, R.I.; Robin, N.H.; Nwokoro, N.; Mulvihill, J.J.; Losken, H.W.; Mulliken, J.B.; Guttmacher, A.E.; Wilroy, R.S.; Clarke, L.A.; Hollway, G.; Ades, L.C.; Haan, E.A.; Mulley, J.C.; Cohen, M.M., Jr.; Bellus, G.A.; Francomano, C.A.; Moloney, D.M.; Wall, S.A.; Wilkie, A.O.; et al.
    A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome (1997), Am. J. Hum. Genet., 60, 555-564.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
additional information FGFR3 transmembrane domain mutation, Ala391Glu, in three unrelated families with Crouzon syndrome and acanthosis nigricans, a specific skin disorder of hyperkeratosis and hyperpigmentation Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P22607
-
-

Synonyms

Synonyms Comment Organism
fibroblast growth factor receptor 3
-
Homo sapiens