An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2369
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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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
- Keyword
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Harnwege
Lymphsystem
Sekretion
Drüse
Endokrinium
Blutbildendes Gewebe
- Creator
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Yamamura, Tomohiko
- Contributor
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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
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10.1186/s12882-017-0774-4
- URN
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urn:nbn:de:1111-201802036901
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:59 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- 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)
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Distal renal tubular acidosis in primary Sjögren syndrome
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis
Renal Tubular Acidosis and Management Strategies: A Narrative Review
Renal Tubular Acidosis in Patients with Systemic Lupus Erythematosus
Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis
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Renal tubular acidosis is highly prevalent in critically ill patients
Relationship between rickets and incomplete distal renal tubular acidosis in children
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment
Genotype–Phenotype Analysis in Pediatric Patients with 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
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis
Renal Tubular Acidosis and Management Strategies: A Narrative Review
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
Relationship between rickets and incomplete distal renal tubular acidosis in children
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment