Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2

Nature Genetics

Volumn 13, Issue 2, 1996, Pages 183-188

  Simon, David B ^a   Karet, Fiona E ^a   Hamdan, Jahed M ^b   Di Pietro, Antonio ^c   Sanjad, Sami A ^d   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DHAHRAN HEALTH CENTER   (Saudi Arabia)

^c CARDARELLI HOSPITAL   (Italy)

^d KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARTTER SYNDROME; BODY FLUID; DISEASE CLASSIFICATION; GENE MUTATION; HUMAN; HYPERCALCIURIA; HYPOKALEMIC ALKALOSIS; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BARTTER SYNDROME; BASE SEQUENCE; CARRIER PROTEINS; CLONING, MOLECULAR; CONSANGUINITY; DNA, COMPLEMENTARY; FEMALE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS;

EID: 0030032699     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0696-183     Document Type: Article

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