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A561T) mutation in KCNH2 and her mother who was an asymptomatic carrier of the mutation.
For example, cardiomyocytes of a patient having the R176W mutation in KCNH2 demonstrate a significant increase in action and field potentials but do not show any signs of early afterdepolarization, which agrees with the absence of arrhythmic events in this patient .
Within this hypothesis there may be a role for the HERG gene (also known as the KCNH2 gene) which encodes the rapid rectifier current ([I.
Of the 16 LQTS SIDS cases, 8 featured a mutation in SCN5A, 6 in KCNH2, and 2 in KCNQ1.
Some people in whom Chugh found the KCNH2 gene defect lacked a family history in both SCD and CAD.
Approximately 10% of LQTS patients with a negative FAMILION LQTS Test result are estimated to have a large deletion or duplication mutation in the gene KCNQ1 or KCNH2.
cerevisiae]), PCSK9 (proprotein convertase subtilisin/kexin type 9), and KCNH2 (potassium voltage-gated channel, subfamily H [eagrelated], member 2)] for which >20% of HGMD variants had a median inadequate ([less than or equal to] 20X) depth of coverage.
Of the 16 LQTS SIDS cases, 8 featured a mutation in SCNSA, 6 in KCNH2, and 2 in KCNQ1.
The FAMILION Postmortem Channelopathies Test includes targeted sequencing of 6 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, RYR2) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.
The nonsynonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG).
Among these patients, 20-40% may have mutations in KCNH2 encoding the HERG [alpha]-subunit of the HERG/MiRP1 channel conducting the [I.
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- KCNE1 gene
- KCNQ1 opposite strand/antisense transcript 1
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- KCNQ2 benign neonatal benign familial neonatal seizures