KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have recently been shown to be a common cause of permanent neonatal diabetes. Kir6.2 is expressed in muscle, neuron and brain as well as the pancreatic beta-cell, so patients with K...
Հիմնական հեղինակներ: | , , , , , , , , |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
2006
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