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Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology.

F. Luft,O. Toka,2 Authors,S. Bahring

2003 · DOI: 10.1152/AJPREGU.00174.2003
American Journal of Physiology. Regulatory Integrative and Comparative Physiology · 9 Citations

TLDR

The 3-centimorgan region contains genes encoding a phosphodiesterase, an ATP-dependent potassium channel, and its regulator the sulfonylurea receptor 2, which Screening of the coding regions revealed that none of these candidate genes harbor obvious mutations; however, other genetic mechanisms may nevertheless compromise their function.