A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome

Clinical Nephrology

Volumn 62, Issue 3, 2004, Pages 180-184

  Iida, K ^a   Hanafusa, M ^a   Maekawa, I ^a   Kudo, T ^a   Takahashi, K ^a   Yoshioka, S ^a   Kishimoto, M ^a   Iguchi, G ^a   Tsukamoto, T ^a   Okimura, Y ^b   Kaji, H ^c   Chihara, K ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Department of Physiology and Biochemistry   (Japan)

Author keywords

Furosemide; Gitelman syndrome; Mutation; Splicing; Thiazide; Thiazide sensitive NaCl cotransporter

Indexed keywords

COTRANSPORTER; FUROSEMIDE; HYDROCHLOROTHIAZIDE; SODIUM CHLORITE;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME 16; EXON; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GITELMAN SYNDROME; HUMAN; HYPOKALEMIA; JAPAN; KIDNEY CLEARANCE; MALE; MISSENSE MUTATION; POTASSIUM BLOOD LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE ANALYSIS;

EID: 4544357541     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp62180     Document Type: Article

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