Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

Nature Genetics

Volumn 14, Issue 2, 1996, Pages 152-156

  Simon, David B ^a   Karet, Fiona E ^a   Rodriguez Soriano, Juan ^b   Hamdan, Jahed H ^c   DiPietro, Antonio ^d   Trachtman, Howard ^e   Sanjad, Sami A ^f   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE CRUCES   (Spain)

^c DHAHRAN HEALTH CENTER   (Saudi Arabia)

^d CARDARELLI HOSPITAL   (Italy)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; POTASSIUM CHANNEL; POTASSIUM ION;

ARTICLE; BARTTER SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; KIDNEY TUBULE ABSORPTION; PRIORITY JOURNAL; REGULATOR GENE; SODIUM ABSORPTION; SYMPTOMATOLOGY;

AMINO ACID SEQUENCE; BARTTER SYNDROME; CARRIER PROTEINS; CELL MEMBRANE; CONSANGUINITY; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS;

EID: 0029794875     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1096-152     Document Type: Article

References (16)

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