Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis-Reference-Cited by-同舟云学术

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Published:2020-03 Issue:3 Volume:97 Page:567-579
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Jobst-Schwan Tilman,Klämbt Verena,Tarsio Maureen,Heneghan John F.,Majmundar Amar J.,Shril Shirlee,Buerger Florian,Ottlewski Isabel,Shmukler Boris E.,Topaloglu Rezan,Hashmi Seema,Hafeez Farkhanda,Emma Francesco,Greco Marcella,Laube Guido F.,Fathy Hanan M.,Pohl Martin,Gellermann Jutta,Milosevic Danko,Baum Michelle A.,Mane Shrikant,Lifton Richard P.,Kane Patricia M.,Alper Seth L.,Hildebrandt Friedhelm

Funder

National Institutes of Health

Deutsche Forschungsgemeinschaft

National Institutes of Health Training Grant in Pediatric Nephrology

Publisher

Elsevier BV

Subject

Nephrology

Reference64 articles.

1. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis;Palazzo;Kidney Int,2017

2. Treatment and long-term outcome in primary distal renal tubular acidosis;Lopez-Garcia;Nephrol Dial Transplant,2019

3. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing;Smith;Nat Genet,2000