CATARACT 14, MULTIPLE TYPES; CTRCT14

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Summary

Literature (2)

Literature for OMIM 601885: CATARACT 14, MULTIPLE TYPES; CTRCT14

Xenbase Articles:
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Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.
The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A,Schaarschmidt F, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.

The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A,Schaarschmidt F, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.