Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations

Pediatric Nephrology

Volumn 21, Issue 2, 2006, Pages 212-217

  Choo, Keng E ^a   Nicoli, Taija K ^b   Bruce, Lesley J ^c   Tanner, Michael J A ^c   Ruiz Linares, Andres ^b   Wrong, Oliver M ^d,e  

^a UNIVERSITI MALAYSIA SARAWAK   (Malaysia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e MIDDLESEX HOSPITAL   (United Kingdom)

Author keywords

Band 3; Distal renal tubular acidosis; Hemolytic anemia; Sarawak

Indexed keywords

ALKALI; ASPARTIC ACID; BICARBONATE CHLORIDE ANTIPORTER; GENOMIC DNA; GLUTAMINE; GLYCINE; HISTIDINE; POTASSIUM CHLORIDE; PROTEIN AE1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3; CHROMOSOME BAND; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ELLIPTOCYTOSIS; ERYTHROCYTE DISORDER; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HEMOLYTIC ANEMIA; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; KIDNEY DISTAL TUBULE; KIDNEY TUBULE ACIDOSIS; LABORATORY TEST; MALAYSIA; MALE; PRIORITY JOURNAL; RECESSIVE GENE; SOUTHEAST ASIA;

ACIDOSIS, RENAL TUBULAR; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; DISEASES IN TWINS; FEMALE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALAYSIA; MALE; MUTATION; PEDIGREE;

EID: 30944467117     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-005-2061-z     Document Type: Article

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