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

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 11, 1998, Pages 6337-6342

  Karet, F E ^a   Gainza, F J ^b   Gyory A Z ^c   Unwin, R J ^d   Wrong, O ^d   Tanner, M J A ^e   Nayir, A ^f   Alpay, H ^f   Santos, F ^g   Hulton, S A ^h   Bakkaloglu, A ⁱ   Ozen, S ⁱ   Cunningham, M J ^j   Di Pietro, A ^k   Walker, W G ^l   Lifton, R P ^a,m  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE CRUCES   (Spain)

^c UNIVERSITY OF SYDNEY   (Australia)

^d INSTITUTE OF UROLOGY AND NEPHROLOGY   (United Kingdom)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f ISTANBUL UNIVERSITY   (Turkey)

^g UNIVERSITY OF OVIEDO   (Spain)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

ⁱ HACETTEPE UNIVERSITY   (Turkey)

^j HARVARD UNIVERSITY   (United States)

^k Serv Ospedaleria di Rilievo Naz   (Italy)

^l JOHNS HOPKINS UNIVERSITY   (United States)

^m YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CHLORIDE ION; DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; ION EXCHANGE; KIDNEY TUBULE ACIDOSIS; MALE; PHENOTYPE; PRIORITY JOURNAL;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; ADULT; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; CHLORIDE-BICARBONATE ANTIPORTERS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION;

EID: 13144262840     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.11.6337     Document Type: Article

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