Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman Syndrome

American Journal of Human Genetics

Volumn 59, Issue 5, 1996, Pages 1019-1026

  Mastroianni, Nadia ^a   Bettinelli, Alberto ^b   Bianchetti, Mario ^b   Colussi, Giacomo ^b   De Fusco, Maurizio ^a   Sereni, Fabio ^b   Ballabio, Andrea ^b   Casari, Giorgio ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHLORIDE TRANSPORT; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY TUBULE DISORDER; PRIORITY JOURNAL; SODIUM TRANSPORT;

ADULT; ALKALOSIS; BIOLOGICAL MARKERS; CALCIUM; CARRIER PROTEINS; DNA PRIMERS; EXONS; FEMALE; HUMANS; HYPOKALEMIA; MAGNESIUM; MAGNESIUM DEFICIENCY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS; SYNDROME;

EID: 0029972220     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Bettinelli A, Bianchetti MG, Borella P, Volpini E, Metta MG, Basilico E, Selicorni A, et al (1995) Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalciuria (Gitelman's syndrome). Kidney Int 47:547-551
2. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Claris Appiani A, Pavanello L, et al (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypocalemic alkalosis: Bartter and Gitelman syndromes. J Pedriatr 120:38-43
3. Colussi G, Macaluso M, Brunati M, Minetti L (1994) Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome. Miner Electrolyte Metab 20:294-301
4. Gitelman HJ, Graham JB, Melt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79:221-235
5. Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P (1995) Acute intermittent porphyria in Finland: 19 mutations in porphobilinogen deaminase gene. Hum Mol Genet 1995:215-222