Published in Physician Law Weekly, October 11th, 2006
"Heterozygous missense mutations in the pore-forming subunit Kir6.2 of ATP-sensitive K+ channels (KATP channels) have recently been shown to cause permanent neonatal diabetes mellitus (PNDM). Functional studies demonstrated that PNDM mutations reduce KATP , channel sensitivity to ATP inhibition, resulting in gain of channel function. However, the impact of these mutations on channel expression has not been examined,"...
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