Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome
Carol Satler(Insilicos (United States)), Alan H. Beggs(Boston Children's Hospital), Geoffrey S. Ginsburg(National Institutes of Health), Mark R. Vesely(Beth Israel Deaconess Medical Center), Priya Duggal(Beth Israel Deaconess Medical Center)
Cited by 67
Related Papers
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|961
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809