Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome-Reference-Cited by-同舟云学术

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome

Published:2018-12-12 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Faridi Rabia¹²^ORCID,Tona Risa¹^ORCID,Brofferio Alessandra³,Hoa Michael⁴^ORCID,Olszewski Rafal⁴,Schrauwen Isabelle⁵^ORCID,Assir Muhammad Z.K.⁶^ORCID,Bandesha Akhtar A.⁷,Khan Asma A.²,Rehman Atteeq U.¹^ORCID,Brewer Carmen⁸^ORCID,Ahmed Wasim⁹,Leal Suzanne M.⁵,Riazuddin Sheikh⁶,Boyden Steven E.¹⁰^ORCID,Friedman Thomas B.¹^ORCID

Affiliation:

1. Laboratory of Molecular GeneticsNational Institute on Deafness and Other Communication DisordersNational Institutes of Health Bethesda Maryland USA

2. National Centre of Excellence in Molecular BiologyUniversity of the Punjab Lahore Pakistan

3. Cardiology BranchNational HeartLungand Blood InstituteNational Institutes of Health Clinical Center Bethesda Maryland USA

4. Auditory Development and Restoration ProgramNational Institute on Deafness and Other Communication DisordersNational Institutes of Health Bethesda Maryland USA

5. Center for Statistical GeneticsDepartment of Molecular and Human GeneticsBaylor College of Medicine Houston Texas USA

6. Allama Iqbal Medical Research CentreJinnah Hospital Complex Lahore Pakistan

7. Cardiology DepartmentThe Pakistan Institute of Medical Sciences Islamabad Pakistan

8. Audiology UnitNational Institute on Deafness and Other Communication Disorders (NIDCD)National Institutes of Health Bethesda Maryland USA

9. Department of BiochemistryFaculty of Biological SciencesQuaid‐i‐Azam University Islamabad Pakistan

10. Section on Genetics of Communication DisordersNational Institute on Deafness and Other Communication DisordersNational Institutes of Health Bethesda Maryland USA

Funder

National Institute on Deafness and Other Communication Disorders

Higher Education Commision, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23689

Reference101 articles.

1. KCNE1 and KCNE3: The yin and yang of voltage-gated K+ channel regulation

2. Disease‐associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism