Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia-Reference-Cited by-同舟云学术

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

Published:2009-12-23 Issue:1 Volume:152A Page:245-255
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Martínez-Frías María Luisa,de Frutos Cristina A.,Bermejo Eva,Nieto M. Angela,

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33188/fullpdf

Reference91 articles.

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4. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995a

5. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995b

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