Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
about
Loss of Slc4a1b chloride/bicarbonate exchanger function protects mechanosensory hair cells from aminoglycoside damage in the zebrafish mutant persephoneMolecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutationsFourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.The importance of the ionic product for water to understand the physiology of the acid-base balance in humans.Tubular and genetic disorders associated with kidney stones.Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
P2860
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P2860
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
description
2012 nî lūn-bûn
@nan
2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@en
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@nl
type
label
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@en
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@nl
prefLabel
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@en
Homozygous and compound hetero ...... nd sensorineural hearing loss.
@nl
P2093
P2860
P1433
P1476
Homozygous and compound hetero ...... and sensorineural hearing loss
@en
P2093
A D Kistler
B Schuknecht
C A Wagner
R P Wüthrich
R Vargas-Poussou
P2860
P304
P356
10.1111/J.1399-0004.2012.01891.X
P50
P577
2012-05-11T00:00:00Z