Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. (Q47761284)

5 February 2018

title

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. (English)

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5 February 2018

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Jun Inatomi

1

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5 February 2018

Shoko Horita

2

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5 February 2018

Nancy Braverman

3

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5 February 2018

Takashi Sekine

4

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5 February 2018

Hideomi Yamada

5

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Yoshiro Suzuki

6

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5 February 2018

Katsumasa Kawahara

7

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5 February 2018

Nobuo Moriyama

8

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5 February 2018

Akihiko Kudo

9

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5 February 2018

Hayato Kawakami

10

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Mitsunobu Shimadzu

11

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5 February 2018

Hitoshi Endou

12

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5 February 2018

Toshiro Fujita

13

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5 February 2018

George Seki

14

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5 February 2018

Takashi Igarashi

15

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5 February 2018

publication date

14 April 2004

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5 February 2018

published in

Pfluegers Archiv

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5 February 2018

volume

448

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issue

4

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page(s)

438-444

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5 February 2018

https://scigraph.springernature.com/pub.10.1007/s00424-004-1278-1

exact match

0 references

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Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

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Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis

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Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC)

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Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

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Functional and molecular evidence for Na(+)-HCO3- cotransporter in human corneal endothelial cells

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A case of bicarbonate-losing renal tubular acidosis with defective carboanhydrase activity

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Bicarbonate reabsorption and hydrogen ionexcretion in children with renal tubular acidosis

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Cloning and functional expression of a human kidney Na+:HCO3- cotransporter

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10.1007/S00424-004-1278-1

Identifiers

DOI

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5 February 2018

PubMed ID

15085340

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5 February 2018