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Autor:
Moradeke A. Bamgboye, Kevin G. Herold, Daiana C.O. Vieira, Maria K. Traficante, Philippa J. Rogers, Manu Ben-Johny, Ivy E. Dick
The first pathogenic mutation in CaV1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad8a383f7a77526e4274e58da8171031
https://doi.org/10.1101/2022.06.13.495975
https://doi.org/10.1101/2022.06.13.495975
Autor:
Moradeke A. Bamgboye, Kevin G. Herold, Daiana C.O. Vieira, Maria K. Traficante, Philippa J. Rogers, Manu Ben-Johny, Ivy E. Dick
Publikováno v:
The Journal of general physiology. 154(11)
The first pathogenic mutation in CaV1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role