Faridi, Rabia <br/><br/>
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.  [electronic resource] 

 -  Human mutation  02 2019 
 - 162-176 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23689  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Codon, Nonsense--genetics<br/>Deafness--genetics<br/>Female<br/>Heart Ventricles--metabolism<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Jervell-Lange Nielsen Syndrome--genetics<br/>Long QT Syndrome<br/>Male<br/>Middle Aged<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Potassium Channels, Voltage-Gated--genetics<br/>Romano-Ward Syndrome--genetics<br/>Young Adult