Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report-Reference-Cited by-同舟云学术

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

Published:2014-02-24 Issue:5 Volume:36 Page:808-810
ISSN:0886-022X
Container-title:Renal Failure
language:en
Short-container-title:Renal Failure

Author:

Kose Engin,Sirin Kose Seda,Alparslan Caner,Kasap Demir Belde,Berdeli Afig,Mutlubas Ozsan Fatma,Yavascan Onder,Aksu Nejat

Publisher

Informa UK Limited

Subject

Nephrology,Critical Care and Intensive Care Medicine,General Medicine

Link

http://www.tandfonline.com/doi/pdf/10.3109/0886022X.2014.890055

Reference10 articles.

1. Distal Renal Tubular Acidosis Syndromes: A Pathophysiological Approach

2. New insights into the pathogenesis of renal tubular acidosis - from functional to molecular studies

3. Recombination: a means to an end in human cells

4. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

5. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis;Audiology and Neurotology;2023

2. Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing;Genetic Testing and Molecular Biomarkers;2020-02-01

3. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report;BMC Nephrology;2018-12

4. Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance;European Journal of Medical Genetics;2018-01

5. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis;Kidney International;2017-05