1 | HMG, KCNA1 |
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia. | |
van der Wijst J, Glaudemans B, Venselaar H, Nair AV, Forst AL, Hoenderop JG, Bindels RJ. | |
J Biol Chem 285(1):171-8. Epub 2009 Nov 10.PMID: 19903818 2010 | |
2 | HMG, KCNA1 |
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. | |
Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ. | |
J Clin Invest 119(4):936-42. doi: 10.1172/JCI36948. Epub 2009 Mar 23.PMID: 19307729 2009 | |