An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

zu Verbundenen Objekten

Standort
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1471-2369
Umfang
Online-Ressource
Sprache
Englisch
Anmerkungen
online resource.

Erschienen in
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis ; volume:18 ; number:1 ; day:4 ; month:12 ; year:2017 ; pages:1-5 ; date:12.2017
BMC nephrology ; 18, Heft 1 (4.12.2017), 1-5, 12.2017

Schlagwort
Harnwege
Lymphsystem
Sekretion
Drüse
Endokrinium
Blutbildendes Gewebe

Urheber
Yamamura, Tomohiko
Beteiligte Personen und Organisationen
Nozu, Kandai
Miyoshi, Yuya
Nakanishi, Keita
Fujimura, Junya
Horinouchi, Tomoko
Minamikawa, Shogo
Mori, Nobuo
Fujimaru, Rika
Nakanishi, Koichi
Ninchoji, Takeshi
Kaito, Hiroshi
Mariko, Taniguchi-Ikeda
Morioka, Ichiro
Matsuo, Masafumi
Iijima, Kazumoto
SpringerLink (Online service)

DOI
10.1186/s12882-017-0774-4
URN
urn:nbn:de:1111-201802036901
Rechteinformation
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
14.08.2025, 10:59 MESZ

Datenpartner

Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Original beim Datenpartner anzeigen

Beteiligte

  • Yamamura, Tomohiko
  • Nozu, Kandai
  • Miyoshi, Yuya
  • Nakanishi, Keita
  • Fujimura, Junya
  • Horinouchi, Tomoko
  • Minamikawa, Shogo
  • Mori, Nobuo
  • Fujimaru, Rika
  • Nakanishi, Koichi
  • Ninchoji, Takeshi
  • Kaito, Hiroshi
  • Mariko, Taniguchi-Ikeda
  • Morioka, Ichiro
  • Matsuo, Masafumi
  • Iijima, Kazumoto
  • SpringerLink (Online service)

Ähnliche Objekte (12)

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

Distal renal tubular acidosis in primary Sjögren syndrome

Distal renal tubular acidosis in primary Sjögren syndrome

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis

Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis

Renal Tubular Acidosis and Management Strategies: A Narrative Review

Renal Tubular Acidosis and Management Strategies: A Narrative Review

Renal Tubular Acidosis in Patients with Systemic Lupus Erythematosus

Renal Tubular Acidosis in Patients with Systemic Lupus Erythematosus

Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis

Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis

Renal tubular acidosis is highly prevalent in critically ill patients

Renal tubular acidosis is highly prevalent in critically ill patients

Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis

Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

Relationship between rickets and incomplete distal renal tubular acidosis in children

Relationship between rickets and incomplete distal renal tubular acidosis in children

Verbundene Objekte