Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

Nephrology Dialysis Transplantation

Volumn 27, Issue 3, 2012, Pages 1035-1041

  Dinour, Dganit ^a   Gray, Nicola K ^b   Ganon, Liat ^a   Knox, Andrew J S ^c   Shalev, Hanna ^d   Sela, Ben Ami ^a   Campbell, Susan ^e   Sawyer, Lindsay ^f   Shu, Xinhua ^e   Valsamidou, Evgenia ^f   Landau, Daniel ^d   Wright, Alan F ^e   Holtzman, Eliezer J ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c TRINITY COLLEGE DUBLIN   (Ireland)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^e WESTERN GENERAL HOSPITAL   (United Kingdom)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

GLUT9; Hereditary renal hypouricemia; SLC2A9; URAT1; Uric acid

Indexed keywords

URIC ACID;

AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GENE LOCATION; GENETIC ASSOCIATION; HEREDITARY RENAL HYPOURICEMIA TYPE 2; HOMOZYGOTE; HUMAN; HYPOURICEMIA; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; OOCYTE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TRANSPORT; SCHOOL CHILD; SLC2A9 GENE; URIC ACID BLOOD LEVEL; XENOPUS LAEVIS;

ADULT; AGED, 80 AND OVER; ANIMALS; CHILD; CHILD, PRESCHOOL; FEMALE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HOMOZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR DYNAMICS SIMULATION; MUTATION; PEDIGREE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URIC ACID; URINARY CALCULI; XENOPUS LAEVIS; YOUNG ADULT;

EID: 84861137621     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfr419     Document Type: Article

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