A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Publisher： John Wiley & Sons Inc

E-ISSN： 1098-1004|36|7|720-727

ISSN： 1059-7794

Source： HUMAN MUTATION, Vol.36, Iss.7, 2015-07, pp. : 720-727

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

By  

HUMAN MUTATION, Vol. 34, Iss. 11, 2013-11 ,pp. : 1537-1546

John Wiley & Sons Inc

Access to resources Recommend Favorite

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing

By  

CLINICAL GENETICS, Vol. 93, Iss. 2, 2018-02 ,pp. : 329-339

John Wiley & Sons Inc

Access to resources Recommend Favorite

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

By Duijkers Lonneke   van den Born L. Ingeborgh   Neidhardt John   Bax Nathalie M.   Pierrache Laurence H. M.   Klevering B. Jeroen   Collin Rob W. J.   Garanto Alejandro  

International Journal of Molecular Sciences, Vol. 19, Iss. 3, 2018-03 ,pp. : 753-753

MDPI

Access to resources Recommend Favorite

Expression and permeation properties of the K+ channel Kir7.1 in the retinal pigment epithelium

By  

THE JOURNAL OF PHYSIOLOGY, Vol. 531, Iss. 2, 2001-03 ,pp. : 329-346

John Wiley & Sons Inc

Access to resources Recommend Favorite

Functional Analysis of a Novel I71N Mutation in the GJB2 Gene Among Southern Egyptians Causing Autosomal Recessive Hearing Loss

By  

Cellular Physiology and Biochemistry, Vol. 26, Iss. 6, 2011-01 ,pp. : 959-966

Karger

Access to resources Recommend Favorite