Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

BACKGROUND: In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by CHRNG is expressed during early foetal development, whereas in the adult, the...

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Detalles Bibliográficos
Autores principales: Kariminejad, Ariana, Almadani, Navid, Khoshaeen, Atefeh, Olsson, Bjorn, Moslemi, Ali-Reza, Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886457/
https://www.ncbi.nlm.nih.gov/pubmed/27245440
http://dx.doi.org/10.1186/s12863-016-0382-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886457/
https://www.ncbi.nlm.nih.gov/pubmed/27245440
http://dx.doi.org/10.1186/s12863-016-0382-5

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