Search Results - "Al‐Salmani, Majid K."

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor by Li, Hongyu, Rodrat, Mayuree, Al‐Salmani, Majid K., Veselu, Diana‐Florentina, Han, Sangwoo T., Raraigh, Karen S., Cutting, Garry R., Sheppard, David N.

“…Some residues in the cystic fibrosis transmembrane conductance regulator (CFTR) channel are the site of more than one CFTR variant that cause cystic fibrosis…”
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Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG by Al Salmani, Majid K., Tavakoli, Rezvan, Zaman, Wajid, Al Harrasi, Ahmed

“…Long QT syndrome type II (LQT2) is caused by loss‐of‐function mutations in the hERG K+ channel, leading to increased incidence of cardiac arrest and sudden…”
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