A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome

New England Journal of Medicine

Volumn 362, Issue 12, 2010, Pages 1102-1109

  Magen, Daniella ^a,b,d   Berger, Liron ^b   Coady, Michael J ^f   Ilivitzki, Anat ^c   Militianu, Daniela ^c   Tieder, Martin ^e   Selig, Sara ^b   Lapointe, Jean Yves ^f   Zelikovic, Israel ^a,d   Skorecki, Karl ^b,d  

^a Pediatric Nephrology Unit   (Israel)

^b Molecular Medicine Laboratory   (Israel)

^c Tel Aviv Sourasky Medical Center ^*  (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; GLUCOSE; PHOSPHATE;

ADULT; AMINOACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; BONE PAIN; BONE RADIOGRAPHY; CASE REPORT; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DNA EXTRACTION; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GLOMERULUS FILTRATION RATE; GLUCOSE BLOOD LEVEL; HUMAN; HYPOPHOSPHATEMIC RICKETS; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; MALE; OPOSSUM; OSTEOMALACIA; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77950250437     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0905647     Document Type: Article

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