A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp.

Authors :: Rotordam MG
Fermo E
Becker N
Barcellini W
Brüggemann A
Fertig N
Egée S
Rapedius M
Bianchi P
Kaestner L
Source :: Haematologica [Haematologica] 2019 May; Vol. 104 (5), pp. e179-e183. Date of Electronic Publication: 2018 Sep 20.
Publication Year :: 2019

Subjects :: Adult
Erythrocytes metabolism
Humans
Male
Prognosis
Anemia, Hemolytic, Congenital genetics
Anemia, Hemolytic, Congenital pathology
Erythrocytes pathology
Gain of Function Mutation
High-Throughput Screening Assays methods
Ion Channels genetics
Patch-Clamp Techniques methods

Full Text Access

Tools