Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor

The acetylcholine receptor (AChR) is a member of the superfamily of transmitter-gated ion channels having a critical role in controlling electrical signals between nerves and muscle cells. Disruptive mutations in genes encoding different subunits of AChR result in multiple pterygium syndrome (MPS),...

Descripción completa

Detalles Bibliográficos
Autores principales: Nazari, Tahere, Rashidi-Nezhad, Ali, Ganji, Maziar, Rezaei, Zahra, Talebi, Saeed, Ghasemi, Nasrin, Tavakkoly Bazzaz, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305466/
https://www.ncbi.nlm.nih.gov/pubmed/32587836
http://dx.doi.org/10.22088/IJMCM.BUMS.8.4.258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305466/
https://www.ncbi.nlm.nih.gov/pubmed/32587836
http://dx.doi.org/10.22088/IJMCM.BUMS.8.4.258

Ejemplares similares