Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
Titel:
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
Auteur:
Naito, Chie Kosar, Karis Kishimoto, Eriko Pena, Loren Huang, Yilun Hao, Kaili Bernieh, Anas Kasten, Jennifer Villa, Chet Kishnani, Priya Deeksha, Bali Gu, Mingxia Asai, Akihiro