(Q50750926)

18 March 2018

title

Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. (English)

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18 March 2018

distal renal tubular acidosis

main subject

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inferred from title

renal tubular acidosis

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3

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18 March 2018

author name string

Keng E Choo

1

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18 March 2018

Taija K Nicoli

2

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18 March 2018

Michael J A Tanner

4

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18 March 2018

Andres Ruiz-Linares

5

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18 March 2018

Oliver M Wrong

6

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18 March 2018

publication date

27 October 2005

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18 March 2018

published in

Pediatric Nephrology

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18 March 2018

volume

21

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18 March 2018

issue

2

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18 March 2018

page(s)

212-217

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18 March 2018

https://scigraph.springernature.com/pub.10.1007/s00467-005-2061-z

exact match

0 references

cites work

Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population

1 reference

12 December 2020

Attainment and Maintenance of Normal Stature with Alkali Therapy in Infants and Children with Classic Renal Tubular Acidosis

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

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

1 reference

12 December 2020

Mapping the ends of transmembrane segments in a polytopic membrane protein. Scanning N-glycosylation mutagenesis of extracytosolic loops in the anion exchanger, band 3

1 reference

12 December 2020

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus

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

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

1 reference

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

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

1 reference

12 December 2020

Genetic diseases of acid-base transporters

1 reference

12 December 2020

Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

1 reference

12 December 2020

The elliptocytoses, ovalocytosis and related disorders

1 reference

12 December 2020

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

1 reference

12 December 2020

Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3.

1 reference

12 December 2020

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

1 reference

12 December 2020

The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene.

1 reference

12 December 2020

10.1007/S00467-005-2061-Z

Identifiers

DOI

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18 March 2018

PubMed ID

16252102

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18 March 2018