ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis-Reference-Cited by-同舟云学术

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

Published:2020-02 Issue: Volume:129 Page:109772
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Dahmani Malika,Talbi Sonia^ORCID,Ammar-Khodja Fatima,Ouhab Sofiane,Boudjenah Farid^ORCID,Djebbar Merieme,Bonnet Crystel,Petit Christine

Funder

National Veterinary School

Ministry of Higher Education and Scientific research

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Mutations in the gene encoding B1 subunit of H + −ATPase cause renal tubular acidosis with sensorineural deafness;Karet;Nat. Genet.,1999

2. 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

3. Co-expression of pendrin, vacuolar H+-ATPase alpha4-subunit and carbonic anhydrase II in epitelial cells of the murine endolymphatic sac;Dou;J. Histochem. Cytochem.,2004

4. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss;Stover;J. Med. Genet.,2002

5. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene;Bruce;J. Clin. Investig.,1997

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