Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit. - Wikidata - awgldk - TriplyDB

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.

http://www.wikidata.org/entity/Q34439794

about

Cryo-EM studies of the structure and dynamics of vacuolar-type ATPases The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement.Clinical and laboratory approaches in the diagnosis of renal tubular acidosis.Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.Functional coupling of V-ATPase and CLC-5.A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis.Proteomic changes in response to crystal formation in Drosophila Malpighian tubules.Genomic medicine for kidney disease.Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis.Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice.Personalized Intervention in Monogenic Stone Formers.

P2860

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P2860

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.

http://www.wikidata.org/entity/Q34439794

description

2014 nî lūn-bûn

@nan

2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@ast

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@en

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@nl

type

label

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@ast

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@en

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@nl

prefLabel

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@ast

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@en

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@nl

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P356

AJPRENAL.00408.2014

P1433

American Journal of Physiology - Renal Physiology

P1476

Incomplete distal renal tubula ...... on of the V-ATPase B1 subunit.

@en

P2093

Carolyn Griffith

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Henry Quiñones

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Jianning Zhang

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Mary Ann Cameron

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Orson W Moe

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Xiao-Song Xie

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P2860

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

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

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds

High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier

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F1063-71

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scholarly article

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10.1152/AJPRENAL.00408.2014

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9

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307

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Daniel G Fuster

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2014-08-27T00:00:00Z

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265134381

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25164082

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