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),...

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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

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