Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Journal of the American Society of Nephrology

Volumn 25, Issue 10, 2014, Pages 2366-2375

  Dasgupta, Debayan ^a   Wee, Mark J ^a   Reyes, Monica ^a   Li, Yuwen ^a   Simm, Peter J ^b,c   Sharma, Amita ^a   Schlingmann, Karl Peter ^d   Janner, Marco ^e   Biggin, Andrew ^b   Lazier, Joanna ^f   Gessner, Michaela ^g   Chrysis, Dionisios ^h   Tuchman, Shamir ⁱ   Baluarte, H Jorge ^j   Levine, Michael A ^j   Tiosano, Dov ^k   Insogna, Karl ^l   Hanley, David A ^m   Carpenter, Thomas O ^l   Ichikawa, Shoji ⁿ   Hoppe, Bernd ^g   Konrad, Martin ^d   Sävendahl, Lars ^o   Munns, Craig F ^b,c   Lee, Hang ^p   Jüppner, Harald ^a   Bergwitz, Clemens ^a   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f UNIVERSITY OF CALGARY   (Canada)

^g UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^h UNIVERSITY OF PATRAS   (Greece)

ⁱ GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k MEYER CHILDREN S HOSPITAL   (Israel)

^l YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF CALGARY   (Canada)

ⁿ INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o KAROLINSKA INSTITUTE   (Sweden)

^p MASSACHUSETTS GENERAL HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; PHOSPHATE; SODIUM PHOSPHATE COTRANSPORTER 2C; SLC34A3 PROTEIN, HUMAN;

ALLELE; ARTICLE; FEMALE; GENE MUTATION; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HETEROZYGOTE; HUMAN; IDIOPATHIC HYPERCALCIURIA; KIDNEY CALCIFICATION; KIDNEY TUBULE ABSORPTION; MAJOR CLINICAL STUDY; MALE; NEPHROLITHIASIS; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; ADULT; CASE REPORT; CHILD; GENETICS; INFANT; META ANALYSIS; MISSENSE MUTATION; PRESCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; KIDNEY CALCULI; MALE; MUTATION, MISSENSE; NEPHROCALCINOSIS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC;

EID: 84921797873     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013101085     Document Type: Article

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