(Q44443649)

3 December 2017

title

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis (English)

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3 December 2017

Suchai Sritippayawan

1

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3 December 2017

Sukachart Kirdpon

2

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3 December 2017

Somkiat Vasuvattakul

3

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3 December 2017

Sirijitta Wasanawatana

4

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3 December 2017

Watanachai Susaengrat

5

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3 December 2017

Worawee Waiyawuth

6

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3 December 2017

Sumalee Nimmannit

7

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3 December 2017

Prida Malasit

8

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3 December 2017

Pa-thai Yenchitsomanus

9

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3 December 2017

publication date

16 May 2003

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3 December 2017

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3 December 2017

volume

18

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3 December 2017

issue

7

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3 December 2017

page(s)

644-648

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https://scigraph.springernature.com/pub.10.1007/s00467-003-1112-6

3 December 2017

exact match

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cites work

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

1 reference

12 December 2020

Band 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG----GAG (Lys----Glu) in codon 56

1 reference

12 December 2020

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies

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12 December 2020

Consultation with the specialist: renal tubular acidosis

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12 December 2020

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

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12 December 2020

Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro854-->Leu

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12 December 2020

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

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12 December 2020

p53 mutational spectra and the role of methylated CpG sequences

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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

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12 December 2020

Atypical distal renal tubular acidosis confirmed by mutation analysis

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12 December 2020

The excretion of acid in renal disease

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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

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12 December 2020

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

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12 December 2020

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene

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12 December 2020

Hereditary distal renal tubular acidosis: new understandings

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12 December 2020

Mutagenic deamination of cytosine residues in DNA

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12 December 2020

CpG dinucleotides are "hotspots" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction

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12 December 2020

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

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12 December 2020

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

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12 December 2020

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

1 reference

12 December 2020

10.1007/S00467-003-1112-6

Identifiers

DOI

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