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Physical Basis behind Achondroplasia, the Most Common Form of Human Dwarfism

Fibroblast growth factor receptor 3 (FGFR3) is a receptor tyrosine kinase that plays an important role in long bone development. The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. Despite many studies, there is n...

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Detaylı Bibliyografya
Asıl Yazarlar: He, Lijuan, Horton, William, Hristova, Kalina
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Biochemistry and Molecular Biology 2010
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2943285/
https://ncbi.nlm.nih.gov/pubmed/20624921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.094086
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