Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity
about
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylationGenotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.Genotype- and phenotype-guided management of congenital long QT syndrome.Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohortGenetics of sudden cardiac death caused by ventricular arrhythmias.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia."Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families.Sudden Arrhythmic Death Syndrome: Diagnostic Yield of Comprehensive Clinical Evaluation of Pediatric First-Degree RelativesEpilepsy in patients with long QT syndrome type 1: A Norwegian family
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P2860
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Prevalence and potential genet ...... ty and compound heterozygosity
@en
type
label
Prevalence and potential genet ...... ty and compound heterozygosity
@en
prefLabel
Prevalence and potential genet ...... ty and compound heterozygosity
@en
P2860
P1476
Prevalence and potential genet ...... ty and compound heterozygosity
@en
P2093
John R Giudicessi
Michael J Ackerman
P2860
P304
P356
10.1161/CIRCGENETICS.112.964684
P577
2013-02-07T00:00:00Z