Two novel mutations of thiazide-sensitive NA-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome

Endocrine Journal

Volumn 49, Issue 1, 2002, Pages 91-96

  Tajima, Toshihiro ^a   Kobayashi, Yuichi ^a   Abe, Shuji ^a   Takahashi, Michiko ^a   Konno, Mutsuko ^a   Nakae, Jun ^a   Okuhara, Kouji ^a   Satoh, Kouhei ^a   Ishikawa, Takeshi ^a   Imai, Toshio ^a   Fujieda, Kenji ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Gitelman syndrome; Hypocalciuria; Hypomagnesemia; Thiazide sensitive Na Cl cotransporter (TSC) gene

Indexed keywords

ALDOSTERONE; ANGIOTENSIN; CALCIUM ION; CARRIER PROTEIN; CHLORIDE ION; DNA; MAGNESIUM ION; POTASSIUM ION; RENIN; SODIUM CHLORIDE COTRANSPORTER; SODIUM ION; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARTTER SYNDROME; DELETION MUTANT; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE INSERTION; GITELMAN SYNDROME; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; METABOLIC ALKALOSIS; MISSENSE MUTATION; MUSCLE WEAKNESS; PARALYSIS; POLYMERASE CHAIN REACTION; SCHOOL CHILD; TETANY;

EID: 0036188716     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.49.91     Document Type: Article

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