Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

New England Journal of Medicine

Volumn 347, Issue 13, 2002, Pages 983-991

  Prié, Dominique ^a,b   Huart, Virginie ^a,b   Bakouh, Naziha ^b   Planelles, Gabrielle ^b   Dellis, Olivier ^b   Gérard, Bénédicte ^a   Hulin, Philippe ^b   Benqué Blanchet, François ^a   Silve, Caroline ^b   Grandchamp, Bernard ^a,b   Friedlander, Gérard ^a,b  

^a BICHAT HOSPITAL   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CARRIER PROTEIN; METHIONINE; MUTANT PROTEIN; PHENYLALANINE; SODIUM DIHYDROGEN PHOSPHATE; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BONE DEMINERALIZATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HEREDITY; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATEMIA; KIDNEY TUBULE ABSORPTION; MALE; NEPHROLITHIASIS; NONHUMAN; NPT2A GENE; OSTEOPOROSIS; PHOSPHATE TRANSPORT; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; UROLITHIASIS; XENOPUS LAEVIS;

ADULT; ANIMALS; FEMALE; HETEROZYGOTE; HUMANS; HYPOPHOSPHATEMIA; KIDNEY; KIDNEY CALCULI; MALE; MIDDLE AGED; OOCYTES; OSTEOPOROSIS; PATCH-CLAMP TECHNIQUES; PHOSPHATES; POINT MUTATION; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS; SYMPORTERS; XENOPUS LAEVIS;

EID: 0037179681     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa020028     Document Type: Article

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