IndraLab

Statements

TYMS binds CACNA1C. 5 / 5
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"Interestingly, recent identification of the CACNA1C-I116V mutation in a patient with LQTS offers a genetic enigma as it localizes to the identical residue as the CACNA1C-I1166T mutation which is assoc[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Classically, TS is associated with mutations CACNA1C-G402S and G406R [5,6] ."
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"In addition to disease with impaired cardiac repolarization, such as TS and LQTS, mutations in CACNA1C have been associated with other arrhythmias, such as Brugada syndrome and early repolarization [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"In contrast, heterozygous mutations in the CACNA1C gene (Cav1.2) are associated with a rare childhood multi-organ disorder called TS."
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sparser
"Interestingly, recent identification of the CACNA1C-I116V mutation in a patient with LQTS offers a genetic enigma as it localizes to the identical residue as the CACNA1C-I1166T mutation which is associated with TS [ xref ]."
27390944