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

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 an aberr...

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Detalles Bibliográficos
Autores principales: Ajmal, Muhammad, Mir, Asif, Shoaib, Muhammad, Malik, Salman Akbar, Nasir, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499044/
https://www.ncbi.nlm.nih.gov/pubmed/28679403
http://dx.doi.org/10.1186/s13000-017-0642-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499044/
https://www.ncbi.nlm.nih.gov/pubmed/28679403
http://dx.doi.org/10.1186/s13000-017-0642-3

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