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