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No association betweenDFNA6 and Pro250Arg mutation inFGFR3

✍ Scribed by Bespalova, Irina N.; Burmeister, Margit; Lesperance, Marci M.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
3 KB
Volume
88
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991015)88:5<451::aid-ajmg1>3.0.co;2-4

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Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the d

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