FGFR3 mutation causes abnormal membranous ossification in achondroplasia-Reference-Cited by-同舟云学术

FGFR3 mutation causes abnormal membranous ossification in achondroplasia

Published:2014-01-12 Issue:11 Volume:23 Page:2914-2925
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Di Rocco Federico,Biosse Duplan Martin,Heuzé Yann,Kaci Nabil,Komla-Ebri Davide,Munnich Arnold,Mugniery Emilie,Benoist-Lasselin Catherine,Legeai-Mallet Laurence

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/11/2914/13917672/ddu004.pdf

Reference52 articles.

1. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia;Naski;Nat. Genet.,1996

2. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia;Rousseau;Nature,1994

3. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia;Shiang;Cell,1994

4. Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET;Placone;PLoS ONE,2012

5. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1);Rousseau;Hum. Mol. Genet.,1996

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