Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.

American journal of kidney diseases : the official journal of the National Kidney Foundation

Volumn 42, Issue 6, 2003, Pages

  Yoo, Tae Hyun ^a   Lee, Sang Ho ^a   Yoon, KyungSik ^a   Baek, HaengWoon ^a   Chung, Joo Ho ^a   Lee, TaeWon ^a   Ihm, ChunGyoo ^a   Kim, MyungJae ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CARRIER PROTEIN; COTRANSPORTER; DRUG RECEPTOR; MAGNESIUM; SLC12A3 PROTEIN, HUMAN; SODIUM CHLORIDE COTRANSPORTER; THIAZIDE RECEPTOR;

ADULT; ALKALOSIS; AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; BLOOD; CHEMISTRY; DIFFERENTIAL DIAGNOSIS; EXON; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; HYPOKALEMIA; HYPOKALEMIC PERIODIC PARALYSIS; INTRON; KIDNEY TUBULE DISORDER; KOREA; MALE; METABOLISM; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; RNA SPLICING; SYNDROME; URINE;

ADULT; ALKALOSIS; AMINO ACID SUBSTITUTION; BARTTER SYNDROME; CALCIUM; CARRIER PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; HYPOKALEMIA; HYPOKALEMIC PERIODIC PARALYSIS; INTRONS; KOREA; MAGNESIUM; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, DRUG; RENAL TUBULAR TRANSPORT, INBORN ERRORS; RNA SPLICE SITES; SODIUM CHLORIDE SYMPORTERS; SYMPORTERS; SYNDROME;

EID: 2142854608     PISSN: None     EISSN: 15236838     Source Type: Journal    
DOI: None     Document Type: Article

References (0)