(Q50484806)

14 March 2018

title

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (English)

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14 March 2018

Edgar Otto

7

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Guido Filler

object named as

Guido Filler

14

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author name string

Rainer Ruf

1

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14 March 2018

Cornelia Rensing

2

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14 March 2018

Rezan Topaloglu

3

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14 March 2018

Lisa Guay-Woodford

4

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14 March 2018

Cornelia Klein

5

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14 March 2018

Martin Vollmer

6

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14 March 2018

Frank Beekmann

8

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14 March 2018

Maria Haller

9

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14 March 2018

Alexander Wiedensohler

10

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14 March 2018

Ernst Leumann

11

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14 March 2018

Corinne Antignac

12

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14 March 2018

Gianfranco Rizzoni

13

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14 March 2018

Matthias Brandis

15

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14 March 2018

James L Weber

16

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14 March 2018

Friedhelm Hildebrandt

17

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14 March 2018

publication date

18 December 2002

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14 March 2018

published in

Pediatric Nephrology

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14 March 2018

volume

18

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14 March 2018

issue

2

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14 March 2018

page(s)

105-109

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/s00467-002-1018-8

exact match

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cites work

Progressive sensorineural hearing loss in association with distal renal tubular acidosis

1 reference

12 December 2020

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

1 reference

12 December 2020

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping for human whole-genome scans: past, present, and future

1 reference

12 December 2020

Inherited renal tubular acidosis

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12 December 2020

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

1 reference

12 December 2020

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

12 December 2020

Clinical and pathophysiologic spectrum of acquired distal renal tubular acidosis

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12 December 2020

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

1 reference

12 December 2020

The Sequence of the Human Genome

1 reference

12 December 2020

10.1007/S00467-002-1018-8

Identifiers

DOI

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14 March 2018

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14 March 2018