A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects

Journal of Biological Chemistry

Volumn 279, Issue 50, 2004, Pages 52238-52246

  Dinour, Dganit ^a   Chang, Min Hwang ^b   Satoh, Jun Ichi ^b   Smith, Brenda L ^b   Angle, Nathan ^b   Knecht, Aaron ^a   Serban, Irina ^a   Holtzman, Eli J ^a   Romero, Michael F ^a,c  

^a TEL AVIV UNIVERSITY   (Israel)

^b Dept of Physiology and Biophysics ^*  (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABSORPTION; CHARACTERIZATION; MICROELECTRODES; MUTAGENESIS; PSYCHOPHYSIOLOGY;

ACIDIFICATION; KIDNEY CONTROLS; MEMBRANE CURRENTS; MENTAL RETARDATION;

SODIUM COMPOUNDS;

BICARBONATE SODIUM COTRANSPORTER; COTRANSPORTER;

ACIDIFICATION; ADULT; ANALYSIS; ANTERIOR EYE CHAMBER; ARTICLE; CELL PH; ELECTRIC POTENTIAL; EYE MALFORMATION; FEMALE; FLUID TRANSPORT; GLAUCOMA; HOMOZYGOSITY; HUMAN; ION TRANSPORT; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE ACIDOSIS; MENTAL DEFICIENCY; MICROELECTRODE; MISSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; SODIUM TRANSPORT; WILD TYPE; XENOPUS;

ACIDOSIS, RENAL TUBULAR; ADULT; ANIMALS; BASE SEQUENCE; DNA, COMPLEMENTARY; FEMALE; GLAUCOMA; HUMANS; HYDROGEN-ION CONCENTRATION; ION TRANSPORT; MALE; MUTATION, MISSENSE; OOCYTES; PEDIGREE; RECOMBINANT PROTEINS; SODIUM-BICARBONATE SYMPORTERS; XENOPUS LAEVIS;

GENETTA; VERTEBRATA;

EID: 10844221389     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M406591200     Document Type: Article

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