Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

Abstract Background The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with...

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Bibliographic Details
Main Authors: Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Diagnostic Pathology
Subjects:
Achondroplasia
FGFR3
Transmembrane domain
Mutation
Pakistan
Online Access:http://link.springer.com/article/10.1186/s13000-017-0642-3

Internet

http://link.springer.com/article/10.1186/s13000-017-0642-3

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