Deletion of exons 2-4 in the BSND gene causes severe antenatal bartter syndrome

Pediatric Nephrology

Volumn 24, Issue 4, 2009, Pages 841-844

  Bircan, Zelal ^a   Harputluoglu, Filiz ^a   Jeck, Nikola ^b  

^a KOCAELI UNIVERSITY   (Turkey)

^b University Children's Hospital   (Germany)

Author keywords

BSND; Chronic renal failure; Deletion; Fluid and electrolyte management; Hypercalciuria

Indexed keywords

BARTTIN PROTEIN; CELL PROTEIN; INDOMETACIN; SPIRONOLACTONE; UNCLASSIFIED DRUG;

ARTICLE; BARTTER SYNDROME; CASE REPORT; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; ELECTROLYTE DISTURBANCE; EXON; FAMILY HISTORY; FLUID THERAPY; GENE DELETION; GENETIC ASSOCIATION; GLOMERULUS FILTRATION RATE; HEARING TEST; HUMAN; HYDRAMNIOS; HYPERCALCIURIA; HYPOKALEMIC ALKALOSIS; INFANT; LABORATORY TEST; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PREMATURITY; PRIORITY JOURNAL; RESPIRATORY FAILURE; SEPSIS; WHIPLASH INJURY;

BARTTER SYNDROME; BASE SEQUENCE; CHLORIDE CHANNELS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GLOMERULAR FILTRATION RATE; HUMANS; HYPERCALCIURIA; INFANT; MALE; SEQUENCE DELETION; WATER-ELECTROLYTE IMBALANCE;

EID: 61549106310     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-1008-6     Document Type: Article

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