Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as bartter syndrome with hypocalciuria

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 11, 2004, Pages 5847-5850

  Fukuyama, Shigeru ^a   Hiramatsu, Misako ^b   Akagi, Motohiro ^c   Higa, Mutumi ^a   Ohta, Takao ^a  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

^b Nishibeppu National Hospital   (Japan)

^c Ohtemae Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; COTRANSPORTER; GROWTH HORMONE; INDOMETACIN; POTASSIUM; POTASSIUM SPARING DIURETIC AGENT; SODIUM; SODIUM CHLORIDE;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; CASE REPORT; ELECTROLYTE DISTURBANCE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOCALCIURIA; KIDNEY TUBULE ABSORPTION; MALE; MENTAL DEFICIENCY; METABOLIC ALKALOSIS; POLYDIPSIA; POLYMERASE CHAIN REACTION; POLYURIA; PRIORITY JOURNAL; SCHOOL CHILD; SODIUM TRANSPORT;

ADOLESCENT; ANION TRANSPORT PROTEINS; BARTTER SYNDROME; CALCIUM; CHILD; CHLORIDE CHANNELS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 8744242213     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0775     Document Type: Article

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