A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc

American Journal of Physiology - Renal Physiology

Volumn 295, Issue 2, 2008, Pages

  Jaureguiberry, Graciana ^a   Carpenter, Thomas O ^b   Forman, Stuart ^a   Jüppner, Harald ^a   Bergwitz, Clemens ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Hypercalciuria; Nephrolithiasis; Rickets; SLC34A3

Indexed keywords

ENHANCED GREEN FLUORESCENT PROTEIN; PHOSPHORUS; SODIUM; SODIUM PHOSPHATE COTRANSPORTER 2C; THREONINE; PHOSPHATE; SLC34A3 PROTEIN, HUMAN; SODIUM PHOSPHATE COTRANSPORTER;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILIAL HYPOPHOSPHATEMIC RICKETS; HAPLOTYPE; HUMAN; HYPERCALCIURIA; ISOTOPE LABELING; KIDNEY CELL; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; OPOSSUM; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RICKETS; SODIUM TRANSPORT; XENOPUS LAEVIS; ALLELE; ANIMAL; CYTOLOGY; EXOCYTOSIS; FEMALE; GENETICS; KIDNEY; METABOLISM; MOLECULAR GENETICS; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADULT; ALLELES; ANIMALS; BASE SEQUENCE; EXOCYTOSIS; FEMALE; HAPLOTYPES; HUMANS; HYPERCALCIURIA; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; KIDNEY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OOCYTES; OPOSSUMS; PHOSPHATES; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC; THREONINE; XENOPUS LAEVIS;

EID: 52449123460     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.00090.2008     Document Type: Article

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