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

Journal of Clinical Investigation

Volumn 102, Issue 12, 1998, Pages 2173-2179

  Tanphaichitr, Voravarn S ^a   Sumboonnanonda, Achra ^a   Ideguchi, Hiroshi ^b   Shayakul, Chairat ^c,e   Brugnara, Carlo ^d,e   Takao, Mayumi ^b   Veerakul, Gavivann ^a   Alper, Seth L ^c,e  

^a MAHIDOL UNIVERSITY   (Thailand)

^b FUKUOKA UNIVERSITY   (Japan)

^c BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Collecting duct; Human genetics; Kidney; pH; Red cell membrane; Xenopus oocyte

Indexed keywords

GLYCOPHORIN A;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASOLATERAL MEMBRANE; CHILD; FEMALE; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; KIDNEY TUBULE NECROSIS; MALE; PRIORITY JOURNAL; URINE PH;

EID: 0032535372     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI4836     Document Type: Article

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