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Literature for DOID 13911: achromatopsia
Xenbase Articles :
( Denotes literature images)
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells., Liu C,Sherpa T,Varnum MD, Mol Vis. June 11, 2013; 19:1090-0535. |
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions., Dai G,Varnum MD, Am J Physiol Cell Physiol. July 15, 2013; 305(2):1522-1563. |
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia., Cheguru P,Majumder A,Artemyev NO, Mol Cell Neurosci. January 1, 2015; 64:1044-7431. |